SNP Links for Protein (Select 909618063) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 226

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Select item 14890040031.

rs1489004003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:77624988 (GRCh38)
11:77336033 (GRCh37)
Canonical SPDI:: NC_000011.10:77624987:T:C
Gene:: CLNS1A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.77624988T>C, NC_000011.9:g.77336033T>C, NM_001293.3:c.447A>G, NM_001293.2:c.447A>G, NM_001311200.2:c.345A>G, NM_001311200.1:c.345A>G, NM_001311201.2:c.447A>G, NM_001311201.1:c.447A>G, NM_001311199.2:c.447A>G, NM_001311199.1:c.447A>G

Select item 14830514882.

rs1483051488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:77625741 (GRCh38)
11:77336786 (GRCh37)
Canonical SPDI:: NC_000011.10:77625740:A:C
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77625741A>C, NC_000011.9:g.77336786A>C, NM_001293.3:c.340T>G, NM_001293.2:c.340T>G, NM_001311201.2:c.340T>G, NM_001311201.1:c.340T>G, NM_001311199.2:c.340T>G, NM_001311199.1:c.340T>G, NP_001284.1:p.Phe114Val, NP_001298130.1:p.Phe114Val, NP_001298128.1:p.Phe114Val

Select item 14815819673.

rs1481581967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77637703 (GRCh38)
11:77348748 (GRCh37)
Canonical SPDI:: NC_000011.10:77637702:G:A
Gene:: CLNS1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000031/5 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77637703G>A, NC_000011.9:g.77348748G>A, NM_001293.3:c.12C>T, NM_001293.2:c.12C>T, NM_001311200.2:c.12C>T, NM_001311200.1:c.12C>T, NM_001311201.2:c.12C>T, NM_001311201.1:c.12C>T, NM_001311202.2:c.12C>T, NM_001311202.1:c.12C>T, NM_001311199.2:c.12C>T, NM_001311199.1:c.12C>T

Select item 14709657524.

rs1470965752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:77637632 (GRCh38)
11:77348677 (GRCh37)
Canonical SPDI:: NC_000011.10:77637631:T:A
Gene:: CLNS1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77637632T>A, NC_000011.9:g.77348677T>A, NM_001293.3:c.83A>T, NM_001293.2:c.83A>T, NM_001311200.2:c.83A>T, NM_001311200.1:c.83A>T, NM_001311201.2:c.83A>T, NM_001311201.1:c.83A>T, NM_001311202.2:c.83A>T, NM_001311202.1:c.83A>T, NM_001311199.2:c.83A>T, NM_001311199.1:c.83A>T, NP_001284.1:p.Asn28Ile, NP_001298129.1:p.Asn28Ile, NP_001298130.1:p.Asn28Ile, NP_001298131.1:p.Asn28Ile, NP_001298128.1:p.Asn28Ile

Select item 14666083175.

rs1466608317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:77622672 (GRCh38)
11:77333717 (GRCh37)
Canonical SPDI:: NC_000011.10:77622671:T:A
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000011.10:g.77622672T>A, NC_000011.9:g.77333717T>A, NM_001293.3:c.474A>T, NM_001293.2:c.474A>T, NM_001311200.2:c.372A>T, NM_001311200.1:c.372A>T, NM_001311202.2:c.264A>T, NM_001311202.1:c.264A>T, NM_001311199.2:c.474A>T, NM_001311199.1:c.474A>T, NP_001284.1:p.Glu158Asp, NP_001298129.1:p.Glu124Asp, NP_001298131.1:p.Glu88Asp, NP_001298128.1:p.Glu158Asp

Select item 14652832936.

rs1465283293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:77625780 (GRCh38)
11:77336825 (GRCh37)
Canonical SPDI:: NC_000011.10:77625779:C:T
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77625780C>T, NC_000011.9:g.77336825C>T, NM_001293.3:c.301G>A, NM_001293.2:c.301G>A, NM_001311201.2:c.301G>A, NM_001311201.1:c.301G>A, NM_001311199.2:c.301G>A, NM_001311199.1:c.301G>A, NP_001284.1:p.Asp101Asn, NP_001298130.1:p.Asp101Asn, NP_001298128.1:p.Asp101Asn

Select item 14645956287.

rs1464595628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:77624967 (GRCh38)
11:77336012 (GRCh37)
Canonical SPDI:: NC_000011.10:77624966:T:C
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77624967T>C, NC_000011.9:g.77336012T>C, NM_001293.3:c.468A>G, NM_001293.2:c.468A>G, NM_001311200.2:c.366A>G, NM_001311200.1:c.366A>G, NM_001311201.2:c.468A>G, NM_001311201.1:c.468A>G, NM_001311199.2:c.468A>G, NM_001311199.1:c.468A>G

Select item 14605529648.

rs1460552964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:77637706 (GRCh38)
11:77348751 (GRCh37)
Canonical SPDI:: NC_000011.10:77637705:G:C,NC_000011.10:77637705:G:T
Gene:: CLNS1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.77637706G>C, NC_000011.10:g.77637706G>T, NC_000011.9:g.77348751G>C, NC_000011.9:g.77348751G>T, NM_001293.3:c.9C>G, NM_001293.3:c.9C>A, NM_001293.2:c.9C>G, NM_001293.2:c.9C>A, NM_001311200.2:c.9C>G, NM_001311200.2:c.9C>A, NM_001311200.1:c.9C>G, NM_001311200.1:c.9C>A, NM_001311201.2:c.9C>G, NM_001311201.2:c.9C>A, NM_001311201.1:c.9C>G, NM_001311201.1:c.9C>A, NM_001311202.2:c.9C>G, NM_001311202.2:c.9C>A, NM_001311202.1:c.9C>G, NM_001311202.1:c.9C>A, NM_001311199.2:c.9C>G, NM_001311199.2:c.9C>A, NM_001311199.1:c.9C>G, NM_001311199.1:c.9C>A, NP_001284.1:p.Phe3Leu, NP_001284.1:p.Phe3Leu, NP_001298129.1:p.Phe3Leu, NP_001298129.1:p.Phe3Leu, NP_001298130.1:p.Phe3Leu, NP_001298130.1:p.Phe3Leu, NP_001298131.1:p.Phe3Leu, NP_001298131.1:p.Phe3Leu, NP_001298128.1:p.Phe3Leu, NP_001298128.1:p.Phe3Leu

Select item 14595508389.

rs1459550838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:77637613 (GRCh38)
11:77348658 (GRCh37)
Canonical SPDI:: NC_000011.10:77637612:A:G,NC_000011.10:77637612:A:T
Gene:: CLNS1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000248/4 (TOMMO)
HGVS:: NC_000011.10:g.77637613A>G, NC_000011.10:g.77637613A>T, NC_000011.9:g.77348658A>G, NC_000011.9:g.77348658A>T, NM_001293.3:c.102T>C, NM_001293.3:c.102T>A, NM_001293.2:c.102T>C, NM_001293.2:c.102T>A, NM_001311200.2:c.102T>C, NM_001311200.2:c.102T>A, NM_001311200.1:c.102T>C, NM_001311200.1:c.102T>A, NM_001311201.2:c.102T>C, NM_001311201.2:c.102T>A, NM_001311201.1:c.102T>C, NM_001311201.1:c.102T>A, NM_001311202.2:c.102T>C, NM_001311202.2:c.102T>A, NM_001311202.1:c.102T>C, NM_001311202.1:c.102T>A, NM_001311199.2:c.102T>C, NM_001311199.2:c.102T>A, NM_001311199.1:c.102T>C, NM_001311199.1:c.102T>A

Select item 145781549610.

rs1457815496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77625057 (GRCh38)
11:77336102 (GRCh37)
Canonical SPDI:: NC_000011.10:77625056:G:A
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.77625057G>A, NC_000011.9:g.77336102G>A, NM_001293.3:c.378C>T, NM_001293.2:c.378C>T, NM_001311200.2:c.276C>T, NM_001311200.1:c.276C>T, NM_001311201.2:c.378C>T, NM_001311201.1:c.378C>T, NM_001311199.2:c.378C>T, NM_001311199.1:c.378C>T

Select item 145724523311.

rs1457245233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77637680 (GRCh38)
11:77348725 (GRCh37)
Canonical SPDI:: NC_000011.10:77637679:G:A
Gene:: CLNS1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77637680G>A, NC_000011.9:g.77348725G>A, NM_001293.3:c.35C>T, NM_001293.2:c.35C>T, NM_001311200.2:c.35C>T, NM_001311200.1:c.35C>T, NM_001311201.2:c.35C>T, NM_001311201.1:c.35C>T, NM_001311202.2:c.35C>T, NM_001311202.1:c.35C>T, NM_001311199.2:c.35C>T, NM_001311199.1:c.35C>T, NP_001284.1:p.Pro12Leu, NP_001298129.1:p.Pro12Leu, NP_001298130.1:p.Pro12Leu, NP_001298131.1:p.Pro12Leu, NP_001298128.1:p.Pro12Leu

Select item 145407975212.

rs1454079752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:77622650 (GRCh38)
11:77333695 (GRCh37)
Canonical SPDI:: NC_000011.10:77622649:T:C,NC_000011.10:77622649:T:G
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77622650T>C, NC_000011.10:g.77622650T>G, NC_000011.9:g.77333695T>C, NC_000011.9:g.77333695T>G, NM_001293.3:c.496A>G, NM_001293.3:c.496A>C, NM_001293.2:c.496A>G, NM_001293.2:c.496A>C, NM_001311200.2:c.394A>G, NM_001311200.2:c.394A>C, NM_001311200.1:c.394A>G, NM_001311200.1:c.394A>C, NM_001311202.2:c.286A>G, NM_001311202.2:c.286A>C, NM_001311202.1:c.286A>G, NM_001311202.1:c.286A>C, NM_001311199.2:c.496A>G, NM_001311199.2:c.496A>C, NM_001311199.1:c.496A>G, NM_001311199.1:c.496A>C, NP_001284.1:p.Thr166Ala, NP_001284.1:p.Thr166Pro, NP_001298129.1:p.Thr132Ala, NP_001298129.1:p.Thr132Pro, NP_001298131.1:p.Thr96Ala, NP_001298131.1:p.Thr96Pro, NP_001298128.1:p.Thr166Ala, NP_001298128.1:p.Thr166Pro

Select item 145022934813.

rs1450229348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:77622576 (GRCh38)
11:77333621 (GRCh37)
Canonical SPDI:: NC_000011.10:77622575:T:C
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77622576T>C, NC_000011.9:g.77333621T>C, NM_001293.3:c.570A>G, NM_001293.2:c.570A>G, NM_001311200.2:c.468A>G, NM_001311200.1:c.468A>G, NM_001311202.2:c.360A>G, NM_001311202.1:c.360A>G, NM_001311199.2:c.570A>G, NM_001311199.1:c.570A>G

Select item 144574216114.

rs1445742161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:77625754 (GRCh38)
11:77336799 (GRCh37)
Canonical SPDI:: NC_000011.10:77625753:A:T
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.77625754A>T, NC_000011.9:g.77336799A>T, NM_001293.3:c.327T>A, NM_001293.2:c.327T>A, NM_001311201.2:c.327T>A, NM_001311201.1:c.327T>A, NM_001311199.2:c.327T>A, NM_001311199.1:c.327T>A

Select item 144529492615.

rs1445294926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:77637649 (GRCh38)
11:77348694 (GRCh37)
Canonical SPDI:: NC_000011.10:77637648:G:A
Gene:: CLNS1A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.77637649G>A, NC_000011.9:g.77348694G>A, NM_001293.3:c.66C>T, NM_001293.2:c.66C>T, NM_001311200.2:c.66C>T, NM_001311200.1:c.66C>T, NM_001311201.2:c.66C>T, NM_001311201.1:c.66C>T, NM_001311202.2:c.66C>T, NM_001311202.1:c.66C>T, NM_001311199.2:c.66C>T, NM_001311199.1:c.66C>T

Select item 144354698616.

rs1443546986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:77622538 (GRCh38)
11:77333583 (GRCh37)
Canonical SPDI:: NC_000011.10:77622537:G:C
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.77622538G>C, NC_000011.9:g.77333583G>C, NM_001293.3:c.608C>G, NM_001293.2:c.608C>G, NM_001311200.2:c.506C>G, NM_001311200.1:c.506C>G, NM_001311202.2:c.398C>G, NM_001311202.1:c.398C>G, NM_001311199.2:c.608C>G, NM_001311199.1:c.608C>G, NP_001284.1:p.Ala203Gly, NP_001298129.1:p.Ala169Gly, NP_001298131.1:p.Ala133Gly, NP_001298128.1:p.Ala203Gly

Select item 144276694917.

rs1442766949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:77622658 (GRCh38)
11:77333703 (GRCh37)
Canonical SPDI:: NC_000011.10:77622657:T:A,NC_000011.10:77622657:T:C
Gene:: CLNS1A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.77622658T>A, NC_000011.10:g.77622658T>C, NC_000011.9:g.77333703T>A, NC_000011.9:g.77333703T>C, NM_001293.3:c.488A>T, NM_001293.3:c.488A>G, NM_001293.2:c.488A>T, NM_001293.2:c.488A>G, NM_001311200.2:c.386A>T, NM_001311200.2:c.386A>G, NM_001311200.1:c.386A>T, NM_001311200.1:c.386A>G, NM_001311202.2:c.278A>T, NM_001311202.2:c.278A>G, NM_001311202.1:c.278A>T, NM_001311202.1:c.278A>G, NM_001311199.2:c.488A>T, NM_001311199.2:c.488A>G, NM_001311199.1:c.488A>T, NM_001311199.1:c.488A>G, NP_001284.1:p.Asp163Val, NP_001284.1:p.Asp163Gly, NP_001298129.1:p.Asp129Val, NP_001298129.1:p.Asp129Gly, NP_001298131.1:p.Asp93Val, NP_001298131.1:p.Asp93Gly, NP_001298128.1:p.Asp163Val, NP_001298128.1:p.Asp163Gly

Select item 144033902618.

rs1440339026 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:77622630 (GRCh38)
11:77333675 (GRCh37)
Canonical SPDI:: NC_000011.10:77622629:TT:T
Gene:: CLNS1A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77622631del, NC_000011.9:g.77333676del, NM_001293.3:c.516del, NM_001293.2:c.516del, NM_001311200.2:c.414del, NM_001311200.1:c.414del, NM_001311202.2:c.306del, NM_001311202.1:c.306del, NM_001311199.2:c.516del, NM_001311199.1:c.516del, NP_001284.1:p.Gly173fs, NP_001298129.1:p.Gly139fs, NP_001298131.1:p.Gly103fs, NP_001298128.1:p.Gly173fs

Select item 143907987119.

rs1439079871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:77637620 (GRCh38)
11:77348665 (GRCh37)
Canonical SPDI:: NC_000011.10:77637619:A:G
Gene:: CLNS1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.77637620A>G, NC_000011.9:g.77348665A>G, NM_001293.3:c.95T>C, NM_001293.2:c.95T>C, NM_001311200.2:c.95T>C, NM_001311200.1:c.95T>C, NM_001311201.2:c.95T>C, NM_001311201.1:c.95T>C, NM_001311202.2:c.95T>C, NM_001311202.1:c.95T>C, NM_001311199.2:c.95T>C, NM_001311199.1:c.95T>C, NP_001284.1:p.Leu32Pro, NP_001298129.1:p.Leu32Pro, NP_001298130.1:p.Leu32Pro, NP_001298131.1:p.Leu32Pro, NP_001298128.1:p.Leu32Pro

Select item 142738324020.

rs1427383240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:77637702 (GRCh38)
11:77348747 (GRCh37)
Canonical SPDI:: NC_000011.10:77637701:T:G
Gene:: CLNS1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.77637702T>G, NC_000011.9:g.77348747T>G, NM_001293.3:c.13A>C, NM_001293.2:c.13A>C, NM_001311200.2:c.13A>C, NM_001311200.1:c.13A>C, NM_001311201.2:c.13A>C, NM_001311201.1:c.13A>C, NM_001311202.2:c.13A>C, NM_001311202.1:c.13A>C, NM_001311199.2:c.13A>C, NM_001311199.1:c.13A>C, NP_001284.1:p.Lys5Gln, NP_001298129.1:p.Lys5Gln, NP_001298130.1:p.Lys5Gln, NP_001298131.1:p.Lys5Gln, NP_001298128.1:p.Lys5Gln

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