SNP Links for Protein (Select 21361181) - SNP

Links from Protein

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Select item 14907768561.

rs1490776856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116397896 (GRCh38)
1:116940518 (GRCh37)
Canonical SPDI:: NC_000001.11:116397895:A:G
Gene:: ATP1A1 (Varview), ATP1A1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.116397896A>G, NC_000001.10:g.116940518A>G, NG_047036.1:g.30712A>G, NM_000701.8:c.1982A>G, NM_000701.7:c.1982A>G, NM_001160233.2:c.1982A>G, NM_001160233.1:c.1982A>G, NM_001160234.2:c.1889A>G, NM_001160234.1:c.1889A>G, NP_000692.2:p.Lys661Arg, NP_001153705.1:p.Lys661Arg, NP_001153706.1:p.Lys630Arg

Select item 14905356972.

rs1490535697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116398026 (GRCh38)
1:116940648 (GRCh37)
Canonical SPDI:: NC_000001.11:116398025:C:T
Gene:: ATP1A1 (Varview), ATP1A1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116398026C>T, NC_000001.10:g.116940648C>T, NG_047036.1:g.30842C>T, NM_000701.8:c.2112C>T, NM_000701.7:c.2112C>T, NM_001160233.2:c.2112C>T, NM_001160233.1:c.2112C>T, NM_001160234.2:c.2019C>T, NM_001160234.1:c.2019C>T

Select item 14904285113.

rs1490428511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:116403952 (GRCh38)
1:116946574 (GRCh37)
Canonical SPDI:: NC_000001.11:116403951:T:G
Gene:: ATP1A1 (Varview), ATP1A1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.116403952T>G, NC_000001.10:g.116946574T>G, NG_047036.1:g.36768T>G, NM_000701.8:c.3020T>G, NM_000701.7:c.3020T>G, NM_001160233.2:c.3020T>G, NM_001160233.1:c.3020T>G, NM_001160234.2:c.2927T>G, NM_001160234.1:c.2927T>G, NM_001001586.1:c.*172T>G, NP_000692.2:p.Leu1007Arg, NP_001153705.1:p.Leu1007Arg, NP_001153706.1:p.Leu976Arg

Select item 14894636874.

rs1489463687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:116384061 (GRCh38)
1:116926683 (GRCh37)
Canonical SPDI:: NC_000001.11:116384060:T:C
Gene:: ATP1A1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000057/8 (GnomAD)
C=0.000179/45 (GnomAD_exomes)
C=0.000189/23 (ExAC)
C=0.01/6 (NorthernSweden)
HGVS:: NC_000001.11:g.116384061T>C, NC_000001.10:g.116926683T>C, NG_047036.1:g.16877T>C, NM_000701.8:c.60T>C, NM_000701.7:c.60T>C, NM_001160233.2:c.60T>C, NM_001160233.1:c.60T>C, NM_001160234.2:c.-34T>C, NM_001160234.1:c.-34T>C, NM_001001586.1:c.60T>C

Select item 14835863745.

rs1483586374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116388164 (GRCh38)
1:116930786 (GRCh37)
Canonical SPDI:: NC_000001.11:116388163:A:G
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116388164A>G, NC_000001.10:g.116930786A>G, NG_047036.1:g.20980A>G, NM_000701.8:c.421A>G, NM_000701.7:c.421A>G, NM_001160233.2:c.421A>G, NM_001160233.1:c.421A>G, NM_001160234.2:c.328A>G, NM_001160234.1:c.328A>G, NM_001001586.1:c.421A>G, NP_000692.2:p.Ile141Val, NP_001153705.1:p.Ile141Val, NP_001153706.1:p.Ile110Val

Select item 14798833756.

rs1479883375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116401181 (GRCh38)
1:116943803 (GRCh37)
Canonical SPDI:: NC_000001.11:116401180:G:A
Gene:: ATP1A1 (Varview), ATP1A1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.116401181G>A, NC_000001.10:g.116943803G>A, NG_047036.1:g.33997G>A, NM_000701.8:c.2770G>A, NM_000701.7:c.2770G>A, NM_001160233.2:c.2770G>A, NM_001160233.1:c.2770G>A, NM_001160234.2:c.2677G>A, NM_001160234.1:c.2677G>A, NM_001001586.1:c.1968G>A, NP_000692.2:p.Val924Ile, NP_001153705.1:p.Val924Ile, NP_001153706.1:p.Val893Ile

Select item 14793489327.

rs1479348932 [Homo sapiens]

Variant type:: DEL
Alleles:: GGGC>- [Show Flanks]
Chromosome:: 1:116384076 (GRCh38)
1:116926698 (GRCh37)
Canonical SPDI:: NC_000001.11:116384075:GGGC:
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.116384076_116384079del, NC_000001.10:g.116926698_116926701del, NG_047036.1:g.16892_16895del, NM_000701.8:c.75_78del, NM_000701.7:c.75_78del, NM_001160233.2:c.75_78del, NM_001160233.1:c.75_78del, NM_001160234.2:c.-19_-16del, NM_001160234.1:c.-19_-16del, NM_001001586.1:c.75_78del, NP_000692.2:p.Gly26fs, NP_001153705.1:p.Gly26fs

Select item 14779221838.

rs1477922183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:116390241 (GRCh38)
1:116932863 (GRCh37)
Canonical SPDI:: NC_000001.11:116390240:T:C
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116390241T>C, NC_000001.10:g.116932863T>C, NG_047036.1:g.23057T>C, NM_000701.8:c.1052T>C, NM_000701.7:c.1052T>C, NM_001160233.2:c.1052T>C, NM_001160233.1:c.1052T>C, NM_001160234.2:c.959T>C, NM_001160234.1:c.959T>C, NM_001001586.1:c.1052T>C, NP_000692.2:p.Met351Thr, NP_001153705.1:p.Met351Thr, NP_001153706.1:p.Met320Thr

Select item 14769531959.

rs1476953195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116388674 (GRCh38)
1:116931296 (GRCh37)
Canonical SPDI:: NC_000001.11:116388673:A:G
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.116388674A>G, NC_000001.10:g.116931296A>G, NG_047036.1:g.21490A>G, NM_000701.8:c.538A>G, NM_000701.7:c.538A>G, NM_001160233.2:c.538A>G, NM_001160233.1:c.538A>G, NM_001160234.2:c.445A>G, NM_001160234.1:c.445A>G, NM_001001586.1:c.538A>G, NP_000692.2:p.Ile180Val, NP_001153705.1:p.Ile180Val, NP_001153706.1:p.Ile149Val

Select item 147670497410.

rs1476704974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116388937 (GRCh38)
1:116931559 (GRCh37)
Canonical SPDI:: NC_000001.11:116388936:C:T
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116388937C>T, NC_000001.10:g.116931559C>T, NG_047036.1:g.21753C>T, NM_000701.8:c.672C>T, NM_000701.7:c.672C>T, NM_001160233.2:c.672C>T, NM_001160233.1:c.672C>T, NM_001160234.2:c.579C>T, NM_001160234.1:c.579C>T, NM_001001586.1:c.672C>T

Select item 147592714711.

rs1475927147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:116389614 (GRCh38)
1:116932236 (GRCh37)
Canonical SPDI:: NC_000001.11:116389613:T:A
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.116389614T>A, NC_000001.10:g.116932236T>A, NG_047036.1:g.22430T>A, NM_000701.8:c.930T>A, NM_000701.7:c.930T>A, NM_001160233.2:c.930T>A, NM_001160233.1:c.930T>A, NM_001160234.2:c.837T>A, NM_001160234.1:c.837T>A, NM_001001586.1:c.930T>A

Select item 147349622812.

rs1473496228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116390861 (GRCh38)
1:116933483 (GRCh37)
Canonical SPDI:: NC_000001.11:116390860:G:A
Gene:: ATP1A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116390861G>A, NC_000001.10:g.116933483G>A, NG_047036.1:g.23677G>A, NM_000701.8:c.1302G>A, NM_000701.7:c.1302G>A, NM_001160233.2:c.1302G>A, NM_001160233.1:c.1302G>A, NM_001160234.2:c.1209G>A, NM_001160234.1:c.1209G>A, NM_001001586.1:c.1302G>A

Select item 147130196913.

rs1471301969 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:116397978 (GRCh38)
1:116940600 (GRCh37)
Canonical SPDI:: NC_000001.11:116397977:A:C
Gene:: ATP1A1 (Varview), ATP1A1-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.116397978A>C, NC_000001.10:g.116940600A>C, NG_047036.1:g.30794A>C, NM_000701.8:c.2064A>C, NM_000701.7:c.2064A>C, NM_001160233.2:c.2064A>C, NM_001160233.1:c.2064A>C, NM_001160234.2:c.1971A>C, NM_001160234.1:c.1971A>C

Select item 147103310514.

rs1471033105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:116389592 (GRCh38)
1:116932214 (GRCh37)
Canonical SPDI:: NC_000001.11:116389591:G:C
Gene:: ATP1A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116389592G>C, NC_000001.10:g.116932214G>C, NG_047036.1:g.22408G>C, NM_000701.8:c.908G>C, NM_000701.7:c.908G>C, NM_001160233.2:c.908G>C, NM_001160233.1:c.908G>C, NM_001160234.2:c.815G>C, NM_001160234.1:c.815G>C, NM_001001586.1:c.908G>C, NP_000692.2:p.Gly303Ala, NP_001153705.1:p.Gly303Ala, NP_001153706.1:p.Gly272Ala

Select item 146055008015.

rs1460550080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116389647 (GRCh38)
1:116932269 (GRCh37)
Canonical SPDI:: NC_000001.11:116389646:C:T
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.116389647C>T, NC_000001.10:g.116932269C>T, NG_047036.1:g.22463C>T, NM_000701.8:c.963C>T, NM_000701.7:c.963C>T, NM_001160233.2:c.963C>T, NM_001160233.1:c.963C>T, NM_001160234.2:c.870C>T, NM_001160234.1:c.870C>T, NM_001001586.1:c.963C>T

Select item 145565626316.

rs1455656263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116387351 (GRCh38)
1:116929973 (GRCh37)
Canonical SPDI:: NC_000001.11:116387350:C:T
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116387351C>T, NC_000001.10:g.116929973C>T, NG_047036.1:g.20167C>T, NM_000701.8:c.247C>T, NM_000701.7:c.247C>T, NM_001160233.2:c.247C>T, NM_001160233.1:c.247C>T, NM_001160234.2:c.154C>T, NM_001160234.1:c.154C>T, NM_001001586.1:c.247C>T, NP_000692.2:p.Pro83Ser, NP_001153705.1:p.Pro83Ser, NP_001153706.1:p.Pro52Ser

Select item 145292222717.

rs1452922227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116388915 (GRCh38)
1:116931537 (GRCh37)
Canonical SPDI:: NC_000001.11:116388914:C:T
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116388915C>T, NC_000001.10:g.116931537C>T, NG_047036.1:g.21731C>T, NM_000701.8:c.650C>T, NM_000701.7:c.650C>T, NM_001160233.2:c.650C>T, NM_001160233.1:c.650C>T, NM_001160234.2:c.557C>T, NM_001160234.1:c.557C>T, NM_001001586.1:c.650C>T, NP_000692.2:p.Ser217Leu, NP_001153705.1:p.Ser217Leu, NP_001153706.1:p.Ser186Leu

Select item 145153344018.

rs1451533440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:116390379 (GRCh38)
1:116933002 (GRCh37)
Canonical SPDI:: NC_000001.11:116390379:CC:CCC
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000001.11:g.116390381dup, NC_000001.10:g.116933003dup, NG_047036.1:g.23197dup, NM_000701.8:c.1192dup, NM_000701.7:c.1192dup, NM_001160233.2:c.1192dup, NM_001160233.1:c.1192dup, NM_001160234.2:c.1099dup, NM_001160234.1:c.1099dup, NM_001001586.1:c.1192dup, NP_000692.2:p.His398fs, NP_001153705.1:p.His398fs, NP_001153706.1:p.His367fs

Select item 145066482319.

rs1450664823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:116389500 (GRCh38)
1:116932122 (GRCh37)
Canonical SPDI:: NC_000001.11:116389499:A:G
Gene:: ATP1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.116389500A>G, NC_000001.10:g.116932122A>G, NG_047036.1:g.22316A>G, NM_000701.8:c.816A>G, NM_000701.7:c.816A>G, NM_001160233.2:c.816A>G, NM_001160233.1:c.816A>G, NM_001160234.2:c.723A>G, NM_001160234.1:c.723A>G, NM_001001586.1:c.816A>G

Select item 144682698020.

rs1446826980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:116399021 (GRCh38)
1:116941643 (GRCh37)
Canonical SPDI:: NC_000001.11:116399020:T:G
Gene:: ATP1A1 (Varview), ATP1A1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116399021T>G, NC_000001.10:g.116941643T>G, NG_047036.1:g.31837T>G, NM_000701.8:c.2385T>G, NM_000701.7:c.2385T>G, NM_001160233.2:c.2385T>G, NM_001160233.1:c.2385T>G, NM_001160234.2:c.2292T>G, NM_001160234.1:c.2292T>G, NR_027645.1:n.647A>C, NP_000692.2:p.Ile795Met, NP_001153705.1:p.Ile795Met, NP_001153706.1:p.Ile764Met

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