SNP Links for Protein (Select 4503129) - SNP

Links from Protein

Items: 1 to 20 of 683

<< First< Prev

Page of 35

Next >Last >>

Select item 14909381201.

rs1490938120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:108976982 (GRCh38)
9:111739262 (GRCh37)
Canonical SPDI:: NC_000009.12:108976981:G:A
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.108976982G>A, NC_000009.11:g.111739262G>A, XM_005252291.5:c.1168C>T, XM_005252291.4:c.1168C>T, XM_005252291.3:c.1168C>T, XM_005252291.2:c.1168C>T, XM_005252291.1:c.1168C>T, NM_003798.4:c.1168C>T, NM_003798.3:c.1168C>T, NM_003798.2:c.1168C>T, XM_017015250.3:c.637C>T, XM_017015250.2:c.637C>T, XM_017015250.1:c.637C>T, NM_001286974.2:c.1168C>T, NM_001286974.1:c.1168C>T, XR_007061368.1:n.1225C>T, XP_005252348.1:p.Leu390Phe, NP_003789.1:p.Leu390Phe, XP_016870739.1:p.Leu213Phe, NP_001273903.1:p.Leu390Phe

Select item 14903208732.

rs1490320873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:108952452 (GRCh38)
9:111714732 (GRCh37)
Canonical SPDI:: NC_000009.12:108952451:C:T
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.108952452C>T, NC_000009.11:g.111714732C>T, XM_005252291.5:c.1672G>A, XM_005252291.4:c.1672G>A, XM_005252291.3:c.1672G>A, XM_005252291.2:c.1672G>A, XM_005252291.1:c.1672G>A, NM_003798.4:c.1672G>A, NM_003798.3:c.1672G>A, NM_003798.2:c.1672G>A, XM_017015250.3:c.1141G>A, XM_017015250.2:c.1141G>A, XM_017015250.1:c.1141G>A, NM_001286974.2:c.1672G>A, NM_001286974.1:c.1672G>A, XR_007061368.1:n.1729G>A, XP_005252348.1:p.Asp558Asn, NP_003789.1:p.Asp558Asn, XP_016870739.1:p.Asp381Asn, NP_001273903.1:p.Asp558Asn

Select item 14898472053.

rs1489847205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:108942809 (GRCh38)
9:111705089 (GRCh37)
Canonical SPDI:: NC_000009.12:108942808:A:T
Gene:: CTNNAL1 (Varview), ABITRAM (Varview)
Functional Consequence:: intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.108942809A>T, NC_000009.11:g.111705089A>T, XM_005252291.5:c.2159T>A, XM_005252291.4:c.2159T>A, XM_005252291.3:c.2159T>A, XM_005252291.2:c.2159T>A, XM_005252291.1:c.2159T>A, NM_003798.4:c.2165T>A, NM_003798.3:c.2165T>A, NM_003798.2:c.2165T>A, XM_017015250.3:c.1634T>A, XM_017015250.2:c.1634T>A, XM_017015250.1:c.1634T>A, NM_001286974.2:c.*45T>A, NM_001286974.1:c.*45T>A, XP_005252348.1:p.Val720Asp, NP_003789.1:p.Val722Asp, XP_016870739.1:p.Val545Asp

Select item 14888122254.

rs1488812225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:109013343 (GRCh38)
9:111775623 (GRCh37)
Canonical SPDI:: NC_000009.12:109013342:T:C
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000009.12:g.109013343T>C, NC_000009.11:g.111775623T>C, XM_005252291.5:c.100A>G, XM_005252291.4:c.100A>G, XM_005252291.3:c.100A>G, XM_005252291.2:c.100A>G, XM_005252291.1:c.100A>G, NM_003798.4:c.100A>G, NM_003798.3:c.100A>G, NM_003798.2:c.100A>G, XM_017015250.3:c.-242A>G, XM_017015250.2:c.-242A>G, XM_017015250.1:c.-242A>G, NM_001286974.2:c.100A>G, NM_001286974.1:c.100A>G, XR_007061368.1:n.157A>G, XP_005252348.1:p.Thr34Ala, NP_003789.1:p.Thr34Ala, NP_001273903.1:p.Thr34Ala

Select item 14864838205.

rs1486483820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:108979467 (GRCh38)
9:111741747 (GRCh37)
Canonical SPDI:: NC_000009.12:108979466:A:G
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.108979467A>G, NC_000009.11:g.111741747A>G, XM_005252291.5:c.915T>C, XM_005252291.4:c.915T>C, XM_005252291.3:c.915T>C, XM_005252291.2:c.915T>C, XM_005252291.1:c.915T>C, NM_003798.4:c.915T>C, NM_003798.3:c.915T>C, NM_003798.2:c.915T>C, XM_017015250.3:c.384T>C, XM_017015250.2:c.384T>C, XM_017015250.1:c.384T>C, NM_001286974.2:c.915T>C, NM_001286974.1:c.915T>C, XR_007061368.1:n.972T>C

Select item 14861315616.

rs1486131561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:108984388 (GRCh38)
9:111746668 (GRCh37)
Canonical SPDI:: NC_000009.12:108984387:C:A
Gene:: CTNNAL1 (Varview), LOC105376216 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.108984388C>A, NC_000009.11:g.111746668C>A, XM_005252291.5:c.688G>T, XM_005252291.4:c.688G>T, XM_005252291.3:c.688G>T, XM_005252291.2:c.688G>T, XM_005252291.1:c.688G>T, NM_003798.4:c.688G>T, NM_003798.3:c.688G>T, NM_003798.2:c.688G>T, XM_017015250.3:c.157G>T, XM_017015250.2:c.157G>T, XM_017015250.1:c.157G>T, NM_001286974.2:c.688G>T, NM_001286974.1:c.688G>T, XR_007061368.1:n.745G>T, XP_005252348.1:p.Val230Phe, NP_003789.1:p.Val230Phe, XP_016870739.1:p.Val53Phe, NP_001273903.1:p.Val230Phe

Select item 14852764527.

rs1485276452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:108984375 (GRCh38)
9:111746655 (GRCh37)
Canonical SPDI:: NC_000009.12:108984374:C:T
Gene:: CTNNAL1 (Varview), LOC105376216 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.108984375C>T, NC_000009.11:g.111746655C>T, XM_005252291.5:c.701G>A, XM_005252291.4:c.701G>A, XM_005252291.3:c.701G>A, XM_005252291.2:c.701G>A, XM_005252291.1:c.701G>A, NM_003798.4:c.701G>A, NM_003798.3:c.701G>A, NM_003798.2:c.701G>A, XM_017015250.3:c.170G>A, XM_017015250.2:c.170G>A, XM_017015250.1:c.170G>A, NM_001286974.2:c.701G>A, NM_001286974.1:c.701G>A, XR_007061368.1:n.758G>A, XP_005252348.1:p.Cys234Tyr, NP_003789.1:p.Cys234Tyr, XP_016870739.1:p.Cys57Tyr, NP_001273903.1:p.Cys234Tyr

Select item 14839768588.

rs1483976858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:108965445 (GRCh38)
9:111727725 (GRCh37)
Canonical SPDI:: NC_000009.12:108965444:C:T
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
HGVS:: NC_000009.12:g.108965445C>T, NC_000009.11:g.111727725C>T, XM_005252291.5:c.1524G>A, XM_005252291.4:c.1524G>A, XM_005252291.3:c.1524G>A, XM_005252291.2:c.1524G>A, XM_005252291.1:c.1524G>A, NM_003798.4:c.1524G>A, NM_003798.3:c.1524G>A, NM_003798.2:c.1524G>A, XM_017015250.3:c.993G>A, XM_017015250.2:c.993G>A, XM_017015250.1:c.993G>A, NM_001286974.2:c.1524G>A, NM_001286974.1:c.1524G>A, XR_007061368.1:n.1581G>A, XP_005252348.1:p.Trp508Ter, NP_003789.1:p.Trp508Ter, XP_016870739.1:p.Trp331Ter, NP_001273903.1:p.Trp508Ter

Select item 14828693719.

rs1482869371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:108999101 (GRCh38)
9:111761381 (GRCh37)
Canonical SPDI:: NC_000009.12:108999100:T:G
Gene:: CTNNAL1 (Varview), LOC105376216 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.108999101T>G, NC_000009.11:g.111761381T>G, XM_005252291.5:c.297A>C, XM_005252291.4:c.297A>C, XM_005252291.3:c.297A>C, XM_005252291.2:c.297A>C, XM_005252291.1:c.297A>C, NM_003798.4:c.297A>C, NM_003798.3:c.297A>C, NM_003798.2:c.297A>C, NM_001286974.2:c.297A>C, NM_001286974.1:c.297A>C, XR_007061368.1:n.354A>C, XP_005252348.1:p.Glu99Asp, NP_003789.1:p.Glu99Asp, NP_001273903.1:p.Glu99Asp

Select item 148238105410.

rs1482381054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:108952350 (GRCh38)
9:111714630 (GRCh37)
Canonical SPDI:: NC_000009.12:108952349:A:G
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.108952350A>G, NC_000009.11:g.111714630A>G, XM_005252291.5:c.1694T>C, XM_005252291.4:c.1694T>C, XM_005252291.3:c.1694T>C, XM_005252291.2:c.1694T>C, XM_005252291.1:c.1694T>C, NM_003798.4:c.1694T>C, NM_003798.3:c.1694T>C, NM_003798.2:c.1694T>C, XM_017015250.3:c.1163T>C, XM_017015250.2:c.1163T>C, XM_017015250.1:c.1163T>C, NM_001286974.2:c.1694T>C, NM_001286974.1:c.1694T>C, XR_007061368.1:n.1751T>C, XP_005252348.1:p.Ile565Thr, NP_003789.1:p.Ile565Thr, XP_016870739.1:p.Ile388Thr, NP_001273903.1:p.Ile565Thr

Select item 148234983311.

rs1482349833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:108972686 (GRCh38)
9:111734966 (GRCh37)
Canonical SPDI:: NC_000009.12:108972685:G:T
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.108972686G>T, NC_000009.11:g.111734966G>T, XM_005252291.5:c.1336C>A, XM_005252291.4:c.1336C>A, XM_005252291.3:c.1336C>A, XM_005252291.2:c.1336C>A, XM_005252291.1:c.1336C>A, NM_003798.4:c.1336C>A, NM_003798.3:c.1336C>A, NM_003798.2:c.1336C>A, XM_017015250.3:c.805C>A, XM_017015250.2:c.805C>A, XM_017015250.1:c.805C>A, NM_001286974.2:c.1336C>A, NM_001286974.1:c.1336C>A, XR_007061368.1:n.1393C>A, XP_005252348.1:p.Gln446Lys, NP_003789.1:p.Gln446Lys, XP_016870739.1:p.Gln269Lys, NP_001273903.1:p.Gln446Lys

Select item 147734238612.

rs1477342386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:108979447 (GRCh38)
9:111741727 (GRCh37)
Canonical SPDI:: NC_000009.12:108979446:A:C
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.108979447A>C, NC_000009.11:g.111741727A>C, XM_005252291.5:c.935T>G, XM_005252291.4:c.935T>G, XM_005252291.3:c.935T>G, XM_005252291.2:c.935T>G, XM_005252291.1:c.935T>G, NM_003798.4:c.935T>G, NM_003798.3:c.935T>G, NM_003798.2:c.935T>G, XM_017015250.3:c.404T>G, XM_017015250.2:c.404T>G, XM_017015250.1:c.404T>G, NM_001286974.2:c.935T>G, NM_001286974.1:c.935T>G, XR_007061368.1:n.992T>G, XP_005252348.1:p.Phe312Cys, NP_003789.1:p.Phe312Cys, XP_016870739.1:p.Phe135Cys, NP_001273903.1:p.Phe312Cys

Select item 147599115713.

rs1475991157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:108992651 (GRCh38)
9:111754931 (GRCh37)
Canonical SPDI:: NC_000009.12:108992650:A:T
Gene:: CTNNAL1 (Varview), LOC105376216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_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_000009.12:g.108992651A>T, NC_000009.11:g.111754931A>T, NG_033470.1:g.19T>A, XM_005252291.5:c.500T>A, XM_005252291.4:c.500T>A, XM_005252291.3:c.500T>A, XM_005252291.2:c.500T>A, XM_005252291.1:c.500T>A, NM_003798.4:c.500T>A, NM_003798.3:c.500T>A, NM_003798.2:c.500T>A, XM_017015250.3:c.-32T>A, XM_017015250.2:c.-32T>A, XM_017015250.1:c.-32T>A, NM_001286974.2:c.500T>A, NM_001286974.1:c.500T>A, XR_007061368.1:n.557T>A, XP_005252348.1:p.Ile167Lys, NP_003789.1:p.Ile167Lys, NP_001273903.1:p.Ile167Lys

Select item 147545187914.

rs1475451879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:108976994 (GRCh38)
9:111739274 (GRCh37)
Canonical SPDI:: NC_000009.12:108976993:T:A
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.108976994T>A, NC_000009.11:g.111739274T>A, XM_005252291.5:c.1156A>T, XM_005252291.4:c.1156A>T, XM_005252291.3:c.1156A>T, XM_005252291.2:c.1156A>T, XM_005252291.1:c.1156A>T, NM_003798.4:c.1156A>T, NM_003798.3:c.1156A>T, NM_003798.2:c.1156A>T, XM_017015250.3:c.625A>T, XM_017015250.2:c.625A>T, XM_017015250.1:c.625A>T, NM_001286974.2:c.1156A>T, NM_001286974.1:c.1156A>T, XR_007061368.1:n.1213A>T, XP_005252348.1:p.Ile386Phe, NP_003789.1:p.Ile386Phe, XP_016870739.1:p.Ile209Phe, NP_001273903.1:p.Ile386Phe

Select item 147498003015.

rs1474980030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:108992785 (GRCh38)
9:111755065 (GRCh37)
Canonical SPDI:: NC_000009.12:108992784:G:T
Gene:: CTNNAL1 (Varview), LOC105376216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.108992785G>T, NC_000009.11:g.111755065G>T, XM_005252291.5:c.366C>A, XM_005252291.4:c.366C>A, XM_005252291.3:c.366C>A, XM_005252291.2:c.366C>A, XM_005252291.1:c.366C>A, NM_003798.4:c.366C>A, NM_003798.3:c.366C>A, NM_003798.2:c.366C>A, XM_017015250.3:c.-166C>A, XM_017015250.2:c.-166C>A, XM_017015250.1:c.-166C>A, NM_001286974.2:c.366C>A, NM_001286974.1:c.366C>A, XR_007061368.1:n.423C>A, XP_005252348.1:p.Asn122Lys, NP_003789.1:p.Asn122Lys, NP_001273903.1:p.Asn122Lys

Select item 147460304616.

rs1474603046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:108972769 (GRCh38)
9:111735049 (GRCh37)
Canonical SPDI:: NC_000009.12:108972768:A:G
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.108972769A>G, NC_000009.11:g.111735049A>G, XM_005252291.5:c.1253T>C, XM_005252291.4:c.1253T>C, XM_005252291.3:c.1253T>C, XM_005252291.2:c.1253T>C, XM_005252291.1:c.1253T>C, NM_003798.4:c.1253T>C, NM_003798.3:c.1253T>C, NM_003798.2:c.1253T>C, XM_017015250.3:c.722T>C, XM_017015250.2:c.722T>C, XM_017015250.1:c.722T>C, NM_001286974.2:c.1253T>C, NM_001286974.1:c.1253T>C, XR_007061368.1:n.1310T>C, XP_005252348.1:p.Leu418Pro, NP_003789.1:p.Leu418Pro, XP_016870739.1:p.Leu241Pro, NP_001273903.1:p.Leu418Pro

Select item 147435551217.

rs1474355512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:108983311 (GRCh38)
9:111745591 (GRCh37)
Canonical SPDI:: NC_000009.12:108983310:C:G,NC_000009.12:108983310:C:T
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.108983311C>G, NC_000009.12:g.108983311C>T, NC_000009.11:g.111745591C>G, NC_000009.11:g.111745591C>T, XM_005252291.5:c.734G>C, XM_005252291.5:c.734G>A, XM_005252291.4:c.734G>C, XM_005252291.4:c.734G>A, XM_005252291.3:c.734G>C, XM_005252291.3:c.734G>A, XM_005252291.2:c.734G>C, XM_005252291.2:c.734G>A, XM_005252291.1:c.734G>C, XM_005252291.1:c.734G>A, NM_003798.4:c.734G>C, NM_003798.4:c.734G>A, NM_003798.3:c.734G>C, NM_003798.3:c.734G>A, NM_003798.2:c.734G>C, NM_003798.2:c.734G>A, XM_017015250.3:c.203G>C, XM_017015250.3:c.203G>A, XM_017015250.2:c.203G>C, XM_017015250.2:c.203G>A, XM_017015250.1:c.203G>C, XM_017015250.1:c.203G>A, NM_001286974.2:c.734G>C, NM_001286974.2:c.734G>A, NM_001286974.1:c.734G>C, NM_001286974.1:c.734G>A, XR_007061368.1:n.791G>C, XR_007061368.1:n.791G>A, XP_005252348.1:p.Cys245Ser, XP_005252348.1:p.Cys245Tyr, NP_003789.1:p.Cys245Ser, NP_003789.1:p.Cys245Tyr, XP_016870739.1:p.Cys68Ser, XP_016870739.1:p.Cys68Tyr, NP_001273903.1:p.Cys245Ser, NP_001273903.1:p.Cys245Tyr

Select item 147218362518.

rs1472183625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:108943768 (GRCh38)
9:111706048 (GRCh37)
Canonical SPDI:: NC_000009.12:108943767:T:C
Gene:: CTNNAL1 (Varview), ABITRAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.108943768T>C, NC_000009.11:g.111706048T>C, XM_005252291.5:c.1990A>G, XM_005252291.4:c.1990A>G, XM_005252291.3:c.1990A>G, XM_005252291.2:c.1990A>G, XM_005252291.1:c.1990A>G, NM_003798.4:c.1990A>G, NM_003798.3:c.1990A>G, NM_003798.2:c.1990A>G, XM_017015250.3:c.1459A>G, XM_017015250.2:c.1459A>G, XM_017015250.1:c.1459A>G, NM_001286974.2:c.1990A>G, NM_001286974.1:c.1990A>G, XP_005252348.1:p.Ile664Val, NP_003789.1:p.Ile664Val, XP_016870739.1:p.Ile487Val, NP_001273903.1:p.Ile664Val

Select item 147122088819.

rs1471220888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:108984399 (GRCh38)
9:111746679 (GRCh37)
Canonical SPDI:: NC_000009.12:108984398:G:T
Gene:: CTNNAL1 (Varview), LOC105376216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.108984399G>T, NC_000009.11:g.111746679G>T, XM_005252291.5:c.677C>A, XM_005252291.4:c.677C>A, XM_005252291.3:c.677C>A, XM_005252291.2:c.677C>A, XM_005252291.1:c.677C>A, NM_003798.4:c.677C>A, NM_003798.3:c.677C>A, NM_003798.2:c.677C>A, XM_017015250.3:c.146C>A, XM_017015250.2:c.146C>A, XM_017015250.1:c.146C>A, NM_001286974.2:c.677C>A, NM_001286974.1:c.677C>A, XR_007061368.1:n.734C>A, XP_005252348.1:p.Ala226Glu, NP_003789.1:p.Ala226Glu, XP_016870739.1:p.Ala49Glu, NP_001273903.1:p.Ala226Glu

Select item 146946969220.

rs1469469692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:108983305 (GRCh38)
9:111745585 (GRCh37)
Canonical SPDI:: NC_000009.12:108983304:C:T
Gene:: CTNNAL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.108983305C>T, NC_000009.11:g.111745585C>T, XM_005252291.5:c.740G>A, XM_005252291.4:c.740G>A, XM_005252291.3:c.740G>A, XM_005252291.2:c.740G>A, XM_005252291.1:c.740G>A, NM_003798.4:c.740G>A, NM_003798.3:c.740G>A, NM_003798.2:c.740G>A, XM_017015250.3:c.209G>A, XM_017015250.2:c.209G>A, XM_017015250.1:c.209G>A, NM_001286974.2:c.740G>A, NM_001286974.1:c.740G>A, XR_007061368.1:n.797G>A, XP_005252348.1:p.Arg247Lys, NP_003789.1:p.Arg247Lys, XP_016870739.1:p.Arg70Lys, NP_001273903.1:p.Arg247Lys

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 683

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity