Canonical Allele Identifier: CA145685

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 35720
• ClinVar RCV Id: RCV001354257 ; RCV002453268
• dbSNP Id: rs1801249
• ExAC: 13:52515354 A / G
• gnomAD v2: 13-52515354-A-G
• gnomAD v3: 13-51941218-A-G
• gnomAD v4: 13-51941218-A-G
• MyVariant Identifiers: chr13:g.52515354A>G (hg19) ; chr13:g.51941218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941218A>G , CM000675.2:g.51941218A>G	GRCh38
NC_000013.10:g.52515354A>G , CM000675.1:g.52515354A>G	GRCh37
NC_000013.9:g.51413355A>G	NCBI36
NG_008806.1:g.75277T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1069T>C	ENSP00000489512.2:n.*1069T>C
ENST00000673864.2:c.*2163T>C	ENSP00000501045.2:n.*2163T>C
ENST00000674147.2:c.2798T>C	ENSP00000500964.2:p.Val933Ala
ENST00000242839.10:c.3419T>C MANE Select	ENSP00000242839.5:p.Val1140Ala
ENST00000344297.9:c.2798T>C	ENSP00000342559.5:p.Val933Ala
ENST00000400366.6:c.3086T>C	ENSP00000383217.3:p.Val1029Ala
ENST00000448424.7:c.3167T>C	ENSP00000416738.3:p.Val1056Ala
ENST00000673772.1:c.3185T>C	ENSP00000501168.1:p.Val1062Ala
ENST00000673867.1:n.3558T>C
ENST00000674126.1:n.3782T>C
ENST00000674147.1:c.2354T>C	ENSP00000500964.1:p.Val785Ala
ENST00000242839.8:c.3419T>C	ENSP00000242839.4:p.Val1140Ala
ENST00000344297.8:c.2798T>C	ENSP00000342559.5:p.Val933Ala
ENST00000400366.5:c.3086T>C	ENSP00000383217.3:p.Val1029Ala
ENST00000400370.8:c.2129T>C	ENSP00000383221.3:p.Val710Ala
ENST00000418097.7:c.3224T>C	ENSP00000393343.2:p.Val1075Ala
ENST00000448424.6:c.3185T>C	ENSP00000416738.2:p.Val1062Ala
ENST00000634296.1:c.1197T>C
ENST00000634308.1:c.*520T>C	ENSP00000489234.1:n.*520T>C
ENST00000634620.1:n.4163T>C
ENST00000634810.1:n.2764T>C
ENST00000634844.1:c.3275T>C	ENSP00000489398.1:p.Val1092Ala
NM_000053.3:c.3419T>C	NP_000044.2:p.Val1140Ala
NM_001005918.2:c.2798T>C	NP_001005918.1:p.Val933Ala
NM_001243182.1:c.3086T>C	NP_001230111.1:p.Val1029Ala
XM_005266423.2:c.3323T>C	XP_005266480.1:p.Val1108Ala
XM_005266424.3:c.3323T>C	XP_005266481.1:p.Val1108Ala
XM_005266427.2:c.3185T>C	XP_005266484.1:p.Val1062Ala
XM_005266428.1:c.3167T>C	XP_005266485.1:p.Val1056Ala
XM_005266430.3:c.3419T>C	XP_005266487.1:p.Val1140Ala
XM_005266431.2:c.3383T>C	XP_005266488.1:p.Val1128Ala
XM_005266432.2:c.2933T>C	XP_005266489.1:p.Val978Ala
XM_006719837.2:c.3323T>C	XP_006719900.1:p.Val1108Ala
XM_006719838.1:c.1235T>C	XP_006719901.1:p.Val412Ala
XM_006719839.1:c.1052T>C	XP_006719902.1:p.Val351Ala
XM_011535117.1:c.3323T>C	XP_011533419.1:p.Val1108Ala
XM_011535118.1:c.3284T>C	XP_011533420.1:p.Val1095Ala
XM_011535119.1:c.3236T>C	XP_011533421.1:p.Val1079Ala
XM_011535120.1:c.3005T>C	XP_011533422.1:p.Val1002Ala
XM_011535121.1:c.2906T>C	XP_011533423.1:p.Val969Ala
XM_011535122.1:c.2087T>C	XP_011533424.1:p.Val696Ala
XR_941601.1:n.3638T>C
XR_941602.1:n.3638T>C
XR_941603.1:n.3638T>C
XR_941604.1:n.3638T>C
NM_001330578.1:c.3185T>C	NP_001317507.1:p.Val1062Ala
NM_001330579.1:c.3167T>C	NP_001317508.1:p.Val1056Ala
XM_005266424.4:c.3323T>C	XP_005266481.1:p.Val1108Ala
XM_005266430.4:c.3419T>C	XP_005266487.1:p.Val1140Ala
XM_005266431.4:c.3383T>C	XP_005266488.1:p.Val1128Ala
XM_006719837.3:c.3323T>C	XP_006719900.1:p.Val1108Ala
XM_011535117.3:c.3323T>C	XP_011533419.1:p.Val1108Ala
XM_017020627.1:c.3323T>C	XP_016876116.1:p.Val1108Ala
NM_000053.4:c.3419T>C MANE Select	NP_000044.2:p.Val1140Ala
NM_001005918.3:c.2798T>C	NP_001005918.1:p.Val933Ala
NM_001330579.2:c.3167T>C	NP_001317508.1:p.Val1056Ala
NM_001243182.2:c.3086T>C	NP_001230111.1:p.Val1029Ala
NM_001330578.2:c.3185T>C	NP_001317507.1:p.Val1062Ala