dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1471524803
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:94894775 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/264690, TOPMED)A=0.000007 (1/140134, GnomAD)A=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- MCTP1 : Synonymous Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | C=1.00000 | A=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | C=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | C=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | C=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.999996 | A=0.000004 |
| gnomAD - Genomes | Global | Study-wide | 140134 | C=0.999993 | A=0.000007 |
| gnomAD - Genomes | European | Sub | 75904 | C=1.00000 | A=0.00000 |
| gnomAD - Genomes | African | Sub | 41984 | C=1.00000 | A=0.00000 |
| gnomAD - Genomes | American | Sub | 13642 | C=1.00000 | A=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3134 | C=0.9997 | A=0.0003 |
| gnomAD - Genomes | Other | Sub | 2148 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | A=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.94894775C>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.94230480C>A |
Gene: MCTP1, multiple C2 and transmembrane domain containing 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MCTP1 transcript variant 20 |
NM_001393551.1:c.510+4530… NM_001393551.1:c.510+45309G>T |
N/A | Intron Variant |
| MCTP1 transcript variant 13 | NM_001393544.1:c.873G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 13 | NP_001380473.1:p.Leu291= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 6 | NM_001393537.1:c.1536G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 6 | NP_001380466.1:p.Leu512= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 1 | NM_024717.7:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform L | NP_078993.4:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 18 | NM_001393549.1:c.1050G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 18 | NP_001380478.1:p.Leu350= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 11 | NM_001393542.1:c.912G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 11 | NP_001380471.1:p.Leu304= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 9 | NM_001393540.1:c.1050G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 9 | NP_001380469.1:p.Leu350= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 5 | NM_001393536.1:c.1575G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 5 | NP_001380465.1:p.Leu525= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 8 | NM_001393539.1:c.972G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 8 | NP_001380468.1:p.Leu324= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 10 | NM_001393541.1:c.918G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 10 | NP_001380470.1:p.Leu306= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 15 | NM_001393546.1:c.951G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 15 | NP_001380475.1:p.Leu317= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 12 | NM_001393543.1:c.912G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 12 | NP_001380472.1:p.Leu304= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 3 | NM_001297777.3:c.912G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 3 | NP_001284706.1:p.Leu304= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 14 | NM_001393545.1:c.867G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 14 | NP_001380474.1:p.Leu289= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 2 | NM_001002796.5:c.1050G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform S | NP_001002796.1:p.Leu350= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 16 | NM_001393547.1:c.933G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 16 | NP_001380476.1:p.Leu311= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 17 | NM_001393548.1:c.912G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 17 | NP_001380477.1:p.Leu304= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 19 | NM_001393550.1:c.912G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 19 | NP_001380479.1:p.Leu304= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 4 | NM_001393535.1:c.1635G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 4 | NP_001380464.1:p.Leu545= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant 7 | NM_001393538.1:c.1050G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform 7 | NP_001380467.1:p.Leu350= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X1 | XM_047417711.1:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X1 | XP_047273667.1:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X2 | XM_017009855.3:c.1674G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X2 | XP_016865344.2:p.Leu558= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X3 | XM_017009858.3:c.1596G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X3 | XP_016865347.2:p.Leu532= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X4 | XM_017009859.2:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X4 | XP_016865348.2:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X5 | XM_047417712.1:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X5 | XP_047273668.1:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X6 | XM_047417713.1:c.1575G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X6 | XP_047273669.1:p.Leu525= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X7 | XM_047417714.1:c.1635G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X7 | XP_047273670.1:p.Leu545= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X8 | XM_047417715.1:c.1596G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X8 | XP_047273671.1:p.Leu532= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X9 | XM_047417716.1:c.1575G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X9 | XP_047273672.1:p.Leu525= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X10 | XM_047417717.1:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X10 | XP_047273673.1:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X11 | XM_047417718.1:c.1536G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X11 | XP_047273674.1:p.Leu512= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X12 | XM_047417719.1:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X12 | XP_047273675.1:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X13 | XM_047417720.1:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X13 | XP_047273676.1:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X14 | XM_047417722.1:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X14 | XP_047273678.1:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X15 | XM_047417723.1:c.1713G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X15 | XP_047273679.1:p.Leu571= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X16 | XM_005272082.6:c.1095G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X16 | XP_005272139.1:p.Leu365= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X17 | XM_047417724.1:c.1017G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X17 | XP_047273680.1:p.Leu339= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X18 | XM_047417725.1:c.1011G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X18 | XP_047273681.1:p.Leu337= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X19 | XM_047417726.1:c.972G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X19 | XP_047273682.1:p.Leu324= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X20 | XM_047417727.1:c.957G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X20 | XP_047273683.1:p.Leu319= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X21 | XM_011543649.4:c.936G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X21 | XP_011541951.1:p.Leu312= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X22 | XM_047417728.1:c.933G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X22 | XP_047273684.1:p.Leu311= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X23 | XM_047417729.1:c.933G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X23 | XP_047273685.1:p.Leu311= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X24 | XM_047417730.1:c.1011G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X24 | XP_047273686.1:p.Leu337= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X25 | XM_047417731.1:c.873G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X25 | XP_047273687.1:p.Leu291= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X26 | XM_047417732.1:c.972G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X26 | XP_047273688.1:p.Leu324= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X27 | XM_047417733.1:c.972G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X27 | XP_047273689.1:p.Leu324= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X28 | XM_047417734.1:c.957G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X28 | XP_047273690.1:p.Leu319= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X29 | XM_047417735.1:c.933G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X29 | XP_047273691.1:p.Leu311= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X30 | XM_047417736.1:c.912G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X30 | XP_047273692.1:p.Leu304= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X31 | XM_047417737.1:c.873G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X31 | XP_047273693.1:p.Leu291= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X32 | XM_047417738.1:c.873G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X32 | XP_047273694.1:p.Leu291= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X33 | XM_047417739.1:c.1050G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X33 | XP_047273695.1:p.Leu350= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X34 | XM_047417741.1:c.972G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X34 | XP_047273697.1:p.Leu324= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X35 | XM_011543650.3:c.696G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X35 | XP_011541952.1:p.Leu232= | L (Leu) > L (Leu) | Synonymous Variant |
| MCTP1 transcript variant X36 | XM_047417742.1:c.873G>T | L [CTG] > L [CTT] | Coding Sequence Variant |
| multiple C2 and transmembrane domain-containing protein 1 isoform X36 | XP_047273698.1:p.Leu291= | L (Leu) > L (Leu) | Synonymous Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A |
|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.94894775= | NC_000005.10:g.94894775C>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.94230480= | NC_000005.9:g.94230480C>A |
| MCTP1 transcript variant 1 | NM_024717.7:c.1713= | NM_024717.7:c.1713G>T |
| MCTP1 transcript variant L | NM_024717.6:c.1713= | NM_024717.6:c.1713G>T |
| MCTP1 transcript variant L | NM_024717.5:c.1713= | NM_024717.5:c.1713G>T |
| MCTP1 transcript variant L | NM_024717.4:c.1713= | NM_024717.4:c.1713G>T |
| MCTP1 transcript variant X16 | XM_005272082.6:c.1095= | XM_005272082.6:c.1095G>T |
| MCTP1 transcript variant X1 | XM_005272082.5:c.1095= | XM_005272082.5:c.1095G>T |
| MCTP1 transcript variant X1 | XM_005272082.4:c.1095= | XM_005272082.4:c.1095G>T |
| MCTP1 transcript variant X1 | XM_005272082.3:c.1095= | XM_005272082.3:c.1095G>T |
| MCTP1 transcript variant X1 | XM_005272082.2:c.1095= | XM_005272082.2:c.1095G>T |
| MCTP1 transcript variant X1 | XM_005272082.1:c.1095= | XM_005272082.1:c.1095G>T |
| MCTP1 transcript variant 2 | NM_001002796.5:c.1050= | NM_001002796.5:c.1050G>T |
| MCTP1 transcript variant S | NM_001002796.4:c.1050= | NM_001002796.4:c.1050G>T |
| MCTP1 transcript variant S | NM_001002796.3:c.1050= | NM_001002796.3:c.1050G>T |
| MCTP1 transcript variant S | NM_001002796.2:c.1050= | NM_001002796.2:c.1050G>T |
| MCTP1 transcript variant X21 | XM_011543649.4:c.936= | XM_011543649.4:c.936G>T |
| MCTP1 transcript variant X9 | XM_011543649.3:c.936= | XM_011543649.3:c.936G>T |
| MCTP1 transcript variant X9 | XM_011543649.2:c.936= | XM_011543649.2:c.936G>T |
| MCTP1 transcript variant X9 | XM_011543649.1:c.936= | XM_011543649.1:c.936G>T |
| MCTP1 transcript variant X2 | XM_017009855.3:c.1674= | XM_017009855.3:c.1674G>T |
| MCTP1 transcript variant X2 | XM_017009855.2:c.897= | XM_017009855.2:c.897G>T |
| MCTP1 transcript variant X2 | XM_017009855.1:c.897= | XM_017009855.1:c.897G>T |
| MCTP1 transcript variant X3 | XM_017009858.3:c.1596= | XM_017009858.3:c.1596G>T |
| MCTP1 transcript variant X5 | XM_017009858.2:c.819= | XM_017009858.2:c.819G>T |
| MCTP1 transcript variant X5 | XM_017009858.1:c.819= | XM_017009858.1:c.819G>T |
| MCTP1 transcript variant X35 | XM_011543650.3:c.696= | XM_011543650.3:c.696G>T |
| MCTP1 transcript variant X16 | XM_011543650.2:c.696= | XM_011543650.2:c.696G>T |
| MCTP1 transcript variant X14 | XM_011543650.1:c.696= | XM_011543650.1:c.696G>T |
| MCTP1 transcript variant 3 | NM_001297777.3:c.912= | NM_001297777.3:c.912G>T |
| MCTP1 transcript variant 3 | NM_001297777.2:c.912= | NM_001297777.2:c.912G>T |
| MCTP1 transcript variant 3 | NM_001297777.1:c.912= | NM_001297777.1:c.912G>T |
| MCTP1 transcript variant X4 | XM_017009859.2:c.1713= | XM_017009859.2:c.1713G>T |
| MCTP1 transcript variant X6 | XM_017009859.1:c.936= | XM_017009859.1:c.936G>T |
| MCTP1 transcript variant 4 | NM_001393535.1:c.1635= | NM_001393535.1:c.1635G>T |
| MCTP1 transcript variant 5 | NM_001393536.1:c.1575= | NM_001393536.1:c.1575G>T |
| MCTP1 transcript variant 6 | NM_001393537.1:c.1536= | NM_001393537.1:c.1536G>T |
| MCTP1 transcript variant X7 | XM_047417714.1:c.1635= | XM_047417714.1:c.1635G>T |
| MCTP1 transcript variant X8 | XM_047417715.1:c.1596= | XM_047417715.1:c.1596G>T |
| MCTP1 transcript variant X9 | XM_047417716.1:c.1575= | XM_047417716.1:c.1575G>T |
| MCTP1 transcript variant X11 | XM_047417718.1:c.1536= | XM_047417718.1:c.1536G>T |
| MCTP1 transcript variant X17 | XM_047417724.1:c.1017= | XM_047417724.1:c.1017G>T |
| MCTP1 transcript variant X18 | XM_047417725.1:c.1011= | XM_047417725.1:c.1011G>T |
| MCTP1 transcript variant 8 | NM_001393539.1:c.972= | NM_001393539.1:c.972G>T |
| MCTP1 transcript variant X20 | XM_047417727.1:c.957= | XM_047417727.1:c.957G>T |
| MCTP1 transcript variant X22 | XM_047417728.1:c.933= | XM_047417728.1:c.933G>T |
| MCTP1 transcript variant 9 | NM_001393540.1:c.1050= | NM_001393540.1:c.1050G>T |
| MCTP1 transcript variant 10 | NM_001393541.1:c.918= | NM_001393541.1:c.918G>T |
| MCTP1 transcript variant 11 | NM_001393542.1:c.912= | NM_001393542.1:c.912G>T |
| MCTP1 transcript variant X24 | XM_047417730.1:c.1011= | XM_047417730.1:c.1011G>T |
| MCTP1 transcript variant 13 | NM_001393544.1:c.873= | NM_001393544.1:c.873G>T |
| MCTP1 transcript variant 14 | NM_001393545.1:c.867= | NM_001393545.1:c.867G>T |
| MCTP1 transcript variant X26 | XM_047417732.1:c.972= | XM_047417732.1:c.972G>T |
| MCTP1 transcript variant X28 | XM_047417734.1:c.957= | XM_047417734.1:c.957G>T |
| MCTP1 transcript variant 15 | NM_001393546.1:c.951= | NM_001393546.1:c.951G>T |
| MCTP1 transcript variant 16 | NM_001393547.1:c.933= | NM_001393547.1:c.933G>T |
| MCTP1 transcript variant X31 | XM_047417737.1:c.873= | XM_047417737.1:c.873G>T |
| MCTP1 transcript variant 17 | NM_001393548.1:c.912= | NM_001393548.1:c.912G>T |
| MCTP1 transcript variant X1 | XM_047417711.1:c.1713= | XM_047417711.1:c.1713G>T |
| MCTP1 transcript variant X5 | XM_047417712.1:c.1713= | XM_047417712.1:c.1713G>T |
| MCTP1 transcript variant X6 | XM_047417713.1:c.1575= | XM_047417713.1:c.1575G>T |
| MCTP1 transcript variant X12 | XM_047417719.1:c.1713= | XM_047417719.1:c.1713G>T |
| MCTP1 transcript variant 7 | NM_001393538.1:c.1050= | NM_001393538.1:c.1050G>T |
| MCTP1 transcript variant X19 | XM_047417726.1:c.972= | XM_047417726.1:c.972G>T |
| MCTP1 transcript variant X23 | XM_047417729.1:c.933= | XM_047417729.1:c.933G>T |
| MCTP1 transcript variant 12 | NM_001393543.1:c.912= | NM_001393543.1:c.912G>T |
| MCTP1 transcript variant X25 | XM_047417731.1:c.873= | XM_047417731.1:c.873G>T |
| MCTP1 transcript variant X27 | XM_047417733.1:c.972= | XM_047417733.1:c.972G>T |
| MCTP1 transcript variant X29 | XM_047417735.1:c.933= | XM_047417735.1:c.933G>T |
| MCTP1 transcript variant X30 | XM_047417736.1:c.912= | XM_047417736.1:c.912G>T |
| MCTP1 transcript variant X32 | XM_047417738.1:c.873= | XM_047417738.1:c.873G>T |
| MCTP1 transcript variant X15 | XM_047417723.1:c.1713= | XM_047417723.1:c.1713G>T |
| MCTP1 transcript variant X10 | XM_047417717.1:c.1713= | XM_047417717.1:c.1713G>T |
| MCTP1 transcript variant X33 | XM_047417739.1:c.1050= | XM_047417739.1:c.1050G>T |
| MCTP1 transcript variant X13 | XM_047417720.1:c.1713= | XM_047417720.1:c.1713G>T |
| MCTP1 transcript variant X14 | XM_047417722.1:c.1713= | XM_047417722.1:c.1713G>T |
| MCTP1 transcript variant X34 | XM_047417741.1:c.972= | XM_047417741.1:c.972G>T |
| MCTP1 transcript variant 18 | NM_001393549.1:c.1050= | NM_001393549.1:c.1050G>T |
| MCTP1 transcript variant X36 | XM_047417742.1:c.873= | XM_047417742.1:c.873G>T |
| MCTP1 transcript variant 19 | NM_001393550.1:c.912= | NM_001393550.1:c.912G>T |
| multiple C2 and transmembrane domain-containing protein 1 isoform L | NP_078993.4:p.Leu571= | NP_078993.4:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X16 | XP_005272139.1:p.Leu365= | XP_005272139.1:p.Leu365= |
| multiple C2 and transmembrane domain-containing protein 1 isoform S | NP_001002796.1:p.Leu350= | NP_001002796.1:p.Leu350= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X21 | XP_011541951.1:p.Leu312= | XP_011541951.1:p.Leu312= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X2 | XP_016865344.2:p.Leu558= | XP_016865344.2:p.Leu558= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X3 | XP_016865347.2:p.Leu532= | XP_016865347.2:p.Leu532= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X35 | XP_011541952.1:p.Leu232= | XP_011541952.1:p.Leu232= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 3 | NP_001284706.1:p.Leu304= | NP_001284706.1:p.Leu304= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X4 | XP_016865348.2:p.Leu571= | XP_016865348.2:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 4 | NP_001380464.1:p.Leu545= | NP_001380464.1:p.Leu545= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 5 | NP_001380465.1:p.Leu525= | NP_001380465.1:p.Leu525= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 6 | NP_001380466.1:p.Leu512= | NP_001380466.1:p.Leu512= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X7 | XP_047273670.1:p.Leu545= | XP_047273670.1:p.Leu545= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X8 | XP_047273671.1:p.Leu532= | XP_047273671.1:p.Leu532= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X9 | XP_047273672.1:p.Leu525= | XP_047273672.1:p.Leu525= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X11 | XP_047273674.1:p.Leu512= | XP_047273674.1:p.Leu512= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X17 | XP_047273680.1:p.Leu339= | XP_047273680.1:p.Leu339= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X18 | XP_047273681.1:p.Leu337= | XP_047273681.1:p.Leu337= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 8 | NP_001380468.1:p.Leu324= | NP_001380468.1:p.Leu324= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X20 | XP_047273683.1:p.Leu319= | XP_047273683.1:p.Leu319= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X22 | XP_047273684.1:p.Leu311= | XP_047273684.1:p.Leu311= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 9 | NP_001380469.1:p.Leu350= | NP_001380469.1:p.Leu350= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 10 | NP_001380470.1:p.Leu306= | NP_001380470.1:p.Leu306= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 11 | NP_001380471.1:p.Leu304= | NP_001380471.1:p.Leu304= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X24 | XP_047273686.1:p.Leu337= | XP_047273686.1:p.Leu337= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 13 | NP_001380473.1:p.Leu291= | NP_001380473.1:p.Leu291= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 14 | NP_001380474.1:p.Leu289= | NP_001380474.1:p.Leu289= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X26 | XP_047273688.1:p.Leu324= | XP_047273688.1:p.Leu324= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X28 | XP_047273690.1:p.Leu319= | XP_047273690.1:p.Leu319= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 15 | NP_001380475.1:p.Leu317= | NP_001380475.1:p.Leu317= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 16 | NP_001380476.1:p.Leu311= | NP_001380476.1:p.Leu311= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X31 | XP_047273693.1:p.Leu291= | XP_047273693.1:p.Leu291= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 17 | NP_001380477.1:p.Leu304= | NP_001380477.1:p.Leu304= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X1 | XP_047273667.1:p.Leu571= | XP_047273667.1:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X5 | XP_047273668.1:p.Leu571= | XP_047273668.1:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X6 | XP_047273669.1:p.Leu525= | XP_047273669.1:p.Leu525= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X12 | XP_047273675.1:p.Leu571= | XP_047273675.1:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 7 | NP_001380467.1:p.Leu350= | NP_001380467.1:p.Leu350= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X19 | XP_047273682.1:p.Leu324= | XP_047273682.1:p.Leu324= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X23 | XP_047273685.1:p.Leu311= | XP_047273685.1:p.Leu311= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 12 | NP_001380472.1:p.Leu304= | NP_001380472.1:p.Leu304= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X25 | XP_047273687.1:p.Leu291= | XP_047273687.1:p.Leu291= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X27 | XP_047273689.1:p.Leu324= | XP_047273689.1:p.Leu324= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X29 | XP_047273691.1:p.Leu311= | XP_047273691.1:p.Leu311= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X30 | XP_047273692.1:p.Leu304= | XP_047273692.1:p.Leu304= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X32 | XP_047273694.1:p.Leu291= | XP_047273694.1:p.Leu291= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X15 | XP_047273679.1:p.Leu571= | XP_047273679.1:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X10 | XP_047273673.1:p.Leu571= | XP_047273673.1:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X33 | XP_047273695.1:p.Leu350= | XP_047273695.1:p.Leu350= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X13 | XP_047273676.1:p.Leu571= | XP_047273676.1:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X14 | XP_047273678.1:p.Leu571= | XP_047273678.1:p.Leu571= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X34 | XP_047273697.1:p.Leu324= | XP_047273697.1:p.Leu324= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 18 | NP_001380478.1:p.Leu350= | NP_001380478.1:p.Leu350= |
| multiple C2 and transmembrane domain-containing protein 1 isoform X36 | XP_047273698.1:p.Leu291= | XP_047273698.1:p.Leu291= |
| multiple C2 and transmembrane domain-containing protein 1 isoform 19 | NP_001380479.1:p.Leu304= | NP_001380479.1:p.Leu304= |
| MCTP1 transcript variant 20 | NM_001393551.1:c.510+45309= | NM_001393551.1:c.510+45309G>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
2 SubSNP,
3 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss4109098324 | Apr 26, 2021 (155) |
| 2 | TOPMED | ss4669131617 | Apr 26, 2021 (155) |
| 3 | gnomAD - Genomes | NC_000005.10 - 94894775 | Apr 26, 2021 (155) |
| 4 | TopMed | NC_000005.10 - 94894775 | Apr 26, 2021 (155) |
| 5 | ALFA | NC_000005.10 - 94894775 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1471524803
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.