Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1488751953

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:114571299 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000007 (1/140262, GnomAD)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABLIM1 : Missense 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 10680 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 466 C=1.000 T=0.000 1.0 0.0 0.0 N/A


Help

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
gnomAD - Genomes Global Study-wide 140262 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75958 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42038 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13660 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=0.9997 T=0.0003
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=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 10 NC_000010.11:g.114571299C>T
GRCh37.p13 chr 10 NC_000010.10:g.116331058C>T
ABLIM1 RefSeqGene NG_029872.2:g.255345G>A
Gene: ABLIM1, actin binding LIM protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABLIM1 transcript variant 11 NM_001322888.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 12 NM_001322889.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 13 NM_001322890.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 14 NM_001322891.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 15 NM_001322892.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 16 NM_001322893.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 17 NM_001322894.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 18 NM_001322895.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 19 NM_001322896.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 20 NM_001322897.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 21 NM_001322898.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 22 NM_001322899.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 23 NM_001322900.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 27 NM_001352443.2:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 4 NM_006720.4:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant 26 NM_001352441.1:c.443G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform v NP_001339370.1:p.Ser148Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 24 NM_001352440.1:c.443G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform u NP_001339369.1:p.Ser148Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 5 NM_001322882.2:c.491G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform d NP_001309811.1:p.Ser164Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 2 NM_001003407.2:c.491G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform b NP_001003407.1:p.Ser164Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 1 NM_002313.7:c.671G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform a NP_002304.3:p.Ser224Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 6 NM_001322883.2:c.491G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform e NP_001309812.1:p.Ser164Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 7 NM_001322884.3:c.440G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform f NP_001309813.1:p.Ser147Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 9 NM_001322886.3:c.440G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform h NP_001309815.1:p.Ser147Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 8 NM_001322885.3:c.440G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform g NP_001309814.1:p.Ser147Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 10 NM_001322887.2:c.491G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform i NP_001309816.1:p.Ser164Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant 25 NM_001352442.2:c.215G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform w NP_001339371.1:p.Ser72Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X27 XM_006717846.4:c. N/A Genic Upstream Transcript Variant
ABLIM1 transcript variant X1 XM_024448010.2:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X1 XP_024303778.2:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X2 XM_011539801.3:c.215G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X2 XP_011538103.2:p.Ser72Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X3 XM_047425229.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X3 XP_047281185.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X4 XM_024448011.2:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X4 XP_024303779.2:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X5 XM_006717837.3:c.491G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X5 XP_006717900.1:p.Ser164Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X6 XM_011539802.3:c.461G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X6 XP_011538104.2:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X7 XM_024448013.2:c.215G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X7 XP_024303781.1:p.Ser72Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X8 XM_024448014.2:c.443G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X8 XP_024303782.1:p.Ser148Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X9 XM_017016245.2:c.440G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X9 XP_016871734.1:p.Ser147Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X10 XM_047425231.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X10 XP_047281187.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X11 XM_047425232.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X11 XP_047281188.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X12 XM_047425233.1:c.491G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X12 XP_047281189.1:p.Ser164Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X13 XM_047425234.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X13 XP_047281190.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X14 XM_017016247.2:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X14 XP_016871736.2:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X15 XM_047425236.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X15 XP_047281192.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X16 XM_024448016.2:c.443G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X16 XP_024303784.1:p.Ser148Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X17 XM_017016250.2:c.440G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X17 XP_016871739.1:p.Ser147Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X18 XM_047425237.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X18 XP_047281193.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X19 XM_047425238.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X19 XP_047281194.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X20 XM_047425239.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X20 XP_047281195.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X21 XM_047425240.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X21 XP_047281196.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X22 XM_017016255.2:c.440G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X22 XP_016871744.1:p.Ser147Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X23 XM_024448018.2:c.443G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X23 XP_024303786.1:p.Ser148Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X24 XM_047425242.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X24 XP_047281198.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X25 XM_047425243.1:c.491G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X25 XP_047281199.1:p.Ser164Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X26 XM_017016256.2:c.443G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X26 XP_016871745.1:p.Ser148Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X28 XM_047425244.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X28 XP_047281200.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X29 XM_047425245.1:c.632G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X29 XP_047281201.1:p.Ser211Asn S (Ser) > N (Asn) Missense Variant
ABLIM1 transcript variant X30 XM_047425246.1:c.443G>A S [AGC] > N [AAC] Coding Sequence Variant
actin-binding LIM protein 1 isoform X30 XP_047281202.1:p.Ser148Asn S (Ser) > N (Asn) Missense 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= T
GRCh38.p14 chr 10 NC_000010.11:g.114571299= NC_000010.11:g.114571299C>T
GRCh37.p13 chr 10 NC_000010.10:g.116331058= NC_000010.10:g.116331058C>T
ABLIM1 RefSeqGene NG_029872.2:g.255345= NG_029872.2:g.255345G>A
ABLIM1 transcript variant 1 NM_002313.7:c.671= NM_002313.7:c.671G>A
ABLIM1 transcript variant 1 NM_002313.6:c.671= NM_002313.6:c.671G>A
ABLIM1 transcript variant 1 NM_002313.5:c.671= NM_002313.5:c.671G>A
ABLIM1 transcript variant 7 NM_001322884.3:c.440= NM_001322884.3:c.440G>A
ABLIM1 transcript variant 7 NM_001322884.2:c.440= NM_001322884.2:c.440G>A
ABLIM1 transcript variant 7 NM_001322884.1:c.440= NM_001322884.1:c.440G>A
ABLIM1 transcript variant 8 NM_001322885.3:c.440= NM_001322885.3:c.440G>A
ABLIM1 transcript variant 8 NM_001322885.2:c.440= NM_001322885.2:c.440G>A
ABLIM1 transcript variant 8 NM_001322885.1:c.440= NM_001322885.1:c.440G>A
ABLIM1 transcript variant 9 NM_001322886.3:c.440= NM_001322886.3:c.440G>A
ABLIM1 transcript variant 9 NM_001322886.2:c.440= NM_001322886.2:c.440G>A
ABLIM1 transcript variant 9 NM_001322886.1:c.440= NM_001322886.1:c.440G>A
ABLIM1 transcript variant 5 NM_001322882.2:c.491= NM_001322882.2:c.491G>A
ABLIM1 transcript variant 5 NM_001322882.1:c.491= NM_001322882.1:c.491G>A
ABLIM1 transcript variant 2 NM_001003407.2:c.491= NM_001003407.2:c.491G>A
ABLIM1 transcript variant 2 NM_001003407.1:c.491= NM_001003407.1:c.491G>A
ABLIM1 transcript variant 6 NM_001322883.2:c.491= NM_001322883.2:c.491G>A
ABLIM1 transcript variant 6 NM_001322883.1:c.491= NM_001322883.1:c.491G>A
ABLIM1 transcript variant 25 NM_001352442.2:c.215= NM_001352442.2:c.215G>A
ABLIM1 transcript variant 25 NM_001352442.1:c.215= NM_001352442.1:c.215G>A
ABLIM1 transcript variant 10 NM_001322887.2:c.491= NM_001322887.2:c.491G>A
ABLIM1 transcript variant 10 NM_001322887.1:c.491= NM_001322887.1:c.491G>A
ABLIM1 transcript variant 24 NM_001352440.1:c.443= NM_001352440.1:c.443G>A
ABLIM1 transcript variant 26 NM_001352441.1:c.443= NM_001352441.1:c.443G>A
ABLIM1 transcript variant X5 XM_006717837.3:c.491= XM_006717837.3:c.491G>A
ABLIM1 transcript variant X4 XM_006717837.2:c.491= XM_006717837.2:c.491G>A
ABLIM1 transcript variant X5 XM_006717837.1:c.491= XM_006717837.1:c.491G>A
ABLIM1 transcript variant X6 XM_011539802.3:c.461= XM_011539802.3:c.461G>A
ABLIM1 transcript variant X6 XM_011539802.2:c.461= XM_011539802.2:c.461G>A
ABLIM1 transcript variant X6 XM_011539802.1:c.443= XM_011539802.1:c.443G>A
ABLIM1 transcript variant X2 XM_011539801.3:c.215= XM_011539801.3:c.215G>A
ABLIM1 transcript variant X2 XM_011539801.2:c.215= XM_011539801.2:c.215G>A
ABLIM1 transcript variant X2 XM_011539801.1:c.530= XM_011539801.1:c.530G>A
ABLIM1 transcript variant ABLIM-m NM_006719.3:c.215= NM_006719.3:c.215G>A
ABLIM1 transcript variant X8 XM_024448014.2:c.443= XM_024448014.2:c.443G>A
ABLIM1 transcript variant X8 XM_024448014.1:c.443= XM_024448014.1:c.443G>A
ABLIM1 transcript variant X16 XM_024448016.2:c.443= XM_024448016.2:c.443G>A
ABLIM1 transcript variant X13 XM_024448016.1:c.443= XM_024448016.1:c.443G>A
ABLIM1 transcript variant X23 XM_024448018.2:c.443= XM_024448018.2:c.443G>A
ABLIM1 transcript variant X17 XM_024448018.1:c.443= XM_024448018.1:c.443G>A
ABLIM1 transcript variant X1 XM_024448010.2:c.632= XM_024448010.2:c.632G>A
ABLIM1 transcript variant X1 XM_024448010.1:c.215= XM_024448010.1:c.215G>A
ABLIM1 transcript variant X9 XM_017016245.2:c.440= XM_017016245.2:c.440G>A
ABLIM1 transcript variant X9 XM_017016245.1:c.440= XM_017016245.1:c.440G>A
ABLIM1 transcript variant X26 XM_017016256.2:c.443= XM_017016256.2:c.443G>A
ABLIM1 transcript variant X19 XM_017016256.1:c.443= XM_017016256.1:c.443G>A
ABLIM1 transcript variant X17 XM_017016250.2:c.440= XM_017016250.2:c.440G>A
ABLIM1 transcript variant X14 XM_017016250.1:c.440= XM_017016250.1:c.440G>A
ABLIM1 transcript variant X4 XM_024448011.2:c.632= XM_024448011.2:c.632G>A
ABLIM1 transcript variant X3 XM_024448011.1:c.215= XM_024448011.1:c.215G>A
ABLIM1 transcript variant X14 XM_017016247.2:c.632= XM_017016247.2:c.632G>A
ABLIM1 transcript variant X10 XM_017016247.1:c.215= XM_017016247.1:c.215G>A
ABLIM1 transcript variant X22 XM_017016255.2:c.440= XM_017016255.2:c.440G>A
ABLIM1 transcript variant X16 XM_017016255.1:c.440= XM_017016255.1:c.440G>A
ABLIM1 transcript variant X7 XM_024448013.2:c.215= XM_024448013.2:c.215G>A
ABLIM1 transcript variant X7 XM_024448013.1:c.215= XM_024448013.1:c.215G>A
ABLIM transcript variant ABLIM-m NM_006719.2:c.215= NM_006719.2:c.215G>A
ABLIM1 transcript variant X12 XM_047425233.1:c.491= XM_047425233.1:c.491G>A
ABLIM1 transcript variant X25 XM_047425243.1:c.491= XM_047425243.1:c.491G>A
ABLIM1 transcript variant 3 NM_001003408.1:c.491= NM_001003408.1:c.491G>A
ABLIM1 transcript variant X3 XM_047425229.1:c.632= XM_047425229.1:c.632G>A
ABLIM1 transcript variant X10 XM_047425231.1:c.632= XM_047425231.1:c.632G>A
ABLIM1 transcript variant X11 XM_047425232.1:c.632= XM_047425232.1:c.632G>A
ABLIM1 transcript variant X13 XM_047425234.1:c.632= XM_047425234.1:c.632G>A
ABLIM1 transcript variant X15 XM_047425236.1:c.632= XM_047425236.1:c.632G>A
ABLIM1 transcript variant X18 XM_047425237.1:c.632= XM_047425237.1:c.632G>A
ABLIM1 transcript variant X19 XM_047425238.1:c.632= XM_047425238.1:c.632G>A
ABLIM1 transcript variant X20 XM_047425239.1:c.632= XM_047425239.1:c.632G>A
ABLIM1 transcript variant X21 XM_047425240.1:c.632= XM_047425240.1:c.632G>A
ABLIM1 transcript variant X24 XM_047425242.1:c.632= XM_047425242.1:c.632G>A
ABLIM1 transcript variant X30 XM_047425246.1:c.443= XM_047425246.1:c.443G>A
ABLIM1 transcript variant X28 XM_047425244.1:c.632= XM_047425244.1:c.632G>A
ABLIM1 transcript variant X29 XM_047425245.1:c.632= XM_047425245.1:c.632G>A
actin-binding LIM protein 1 isoform a NP_002304.3:p.Ser224= NP_002304.3:p.Ser224Asn
actin-binding LIM protein 1 isoform f NP_001309813.1:p.Ser147= NP_001309813.1:p.Ser147Asn
actin-binding LIM protein 1 isoform g NP_001309814.1:p.Ser147= NP_001309814.1:p.Ser147Asn
actin-binding LIM protein 1 isoform h NP_001309815.1:p.Ser147= NP_001309815.1:p.Ser147Asn
actin-binding LIM protein 1 isoform d NP_001309811.1:p.Ser164= NP_001309811.1:p.Ser164Asn
actin-binding LIM protein 1 isoform b NP_001003407.1:p.Ser164= NP_001003407.1:p.Ser164Asn
actin-binding LIM protein 1 isoform e NP_001309812.1:p.Ser164= NP_001309812.1:p.Ser164Asn
actin-binding LIM protein 1 isoform w NP_001339371.1:p.Ser72= NP_001339371.1:p.Ser72Asn
actin-binding LIM protein 1 isoform i NP_001309816.1:p.Ser164= NP_001309816.1:p.Ser164Asn
actin-binding LIM protein 1 isoform u NP_001339369.1:p.Ser148= NP_001339369.1:p.Ser148Asn
actin-binding LIM protein 1 isoform v NP_001339370.1:p.Ser148= NP_001339370.1:p.Ser148Asn
actin-binding LIM protein 1 isoform X5 XP_006717900.1:p.Ser164= XP_006717900.1:p.Ser164Asn
actin-binding LIM protein 1 isoform X6 XP_011538104.2:p.Ser154= XP_011538104.2:p.Ser154Asn
actin-binding LIM protein 1 isoform X2 XP_011538103.2:p.Ser72= XP_011538103.2:p.Ser72Asn
actin-binding LIM protein 1 isoform X8 XP_024303782.1:p.Ser148= XP_024303782.1:p.Ser148Asn
actin-binding LIM protein 1 isoform X16 XP_024303784.1:p.Ser148= XP_024303784.1:p.Ser148Asn
actin-binding LIM protein 1 isoform X23 XP_024303786.1:p.Ser148= XP_024303786.1:p.Ser148Asn
actin-binding LIM protein 1 isoform X1 XP_024303778.2:p.Ser211= XP_024303778.2:p.Ser211Asn
actin-binding LIM protein 1 isoform X9 XP_016871734.1:p.Ser147= XP_016871734.1:p.Ser147Asn
actin-binding LIM protein 1 isoform X26 XP_016871745.1:p.Ser148= XP_016871745.1:p.Ser148Asn
actin-binding LIM protein 1 isoform X17 XP_016871739.1:p.Ser147= XP_016871739.1:p.Ser147Asn
actin-binding LIM protein 1 isoform X4 XP_024303779.2:p.Ser211= XP_024303779.2:p.Ser211Asn
actin-binding LIM protein 1 isoform X14 XP_016871736.2:p.Ser211= XP_016871736.2:p.Ser211Asn
actin-binding LIM protein 1 isoform X22 XP_016871744.1:p.Ser147= XP_016871744.1:p.Ser147Asn
actin-binding LIM protein 1 isoform X7 XP_024303781.1:p.Ser72= XP_024303781.1:p.Ser72Asn
actin-binding LIM protein 1 isoform X12 XP_047281189.1:p.Ser164= XP_047281189.1:p.Ser164Asn
actin-binding LIM protein 1 isoform X25 XP_047281199.1:p.Ser164= XP_047281199.1:p.Ser164Asn
actin-binding LIM protein 1 isoform X3 XP_047281185.1:p.Ser211= XP_047281185.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X10 XP_047281187.1:p.Ser211= XP_047281187.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X11 XP_047281188.1:p.Ser211= XP_047281188.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X13 XP_047281190.1:p.Ser211= XP_047281190.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X15 XP_047281192.1:p.Ser211= XP_047281192.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X18 XP_047281193.1:p.Ser211= XP_047281193.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X19 XP_047281194.1:p.Ser211= XP_047281194.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X20 XP_047281195.1:p.Ser211= XP_047281195.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X21 XP_047281196.1:p.Ser211= XP_047281196.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X24 XP_047281198.1:p.Ser211= XP_047281198.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X30 XP_047281202.1:p.Ser148= XP_047281202.1:p.Ser148Asn
actin-binding LIM protein 1 isoform X28 XP_047281200.1:p.Ser211= XP_047281200.1:p.Ser211Asn
actin-binding LIM protein 1 isoform X29 XP_047281201.1:p.Ser211= XP_047281201.1:p.Ser211Asn
actin-binding LIM protein 1 isoform c NP_001003408.1:p.Ser164= NP_001003408.1:p.Ser164Asn
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748477823 Nov 08, 2017 (151)
2 GNOMAD ss2893716307 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000010.11 - 114571299 Apr 27, 2021 (155)
4 ALFA NC_000010.11 - 114571299 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2748477823, ss2893716307 NC_000010.10:116331057:C:T NC_000010.11:114571298:C:T (self)
364818969, 1022638718 NC_000010.11:114571298:C:T NC_000010.11:114571298:C:T (self)
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 rs1488751953

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
Top▲ Help

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.

Software version is: 2.0.1.post820+afb47a3d