Canonical Allele Identifier: CA6988692

Gene: ATP7B

Linked Data

• dbSNP Id: rs375721306
• ExAC: 13:52515360 T / A
• MyVariant Identifiers: chr13:g.52515360T>A (hg19) ; chr13:g.51941224T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941224T>A , CM000675.2:g.51941224T>A	GRCh38
NC_000013.10:g.52515360T>A , CM000675.1:g.52515360T>A	GRCh37
NC_000013.9:g.51413361T>A	NCBI36
NG_008806.1:g.75271A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1063A>T	ENSP00000489512.2:n.*1063A>T
ENST00000673864.2:c.*2157A>T	ENSP00000501045.2:n.*2157A>T
ENST00000674147.2:c.2792A>T	ENSP00000500964.2:p.Asp931Val
ENST00000242839.10:c.3413A>T MANE Select	ENSP00000242839.5:p.Asp1138Val
ENST00000344297.9:c.2792A>T	ENSP00000342559.5:p.Asp931Val
ENST00000400366.6:c.3080A>T	ENSP00000383217.3:p.Asp1027Val
ENST00000448424.7:c.3161A>T	ENSP00000416738.3:p.Asp1054Val
ENST00000673772.1:c.3179A>T	ENSP00000501168.1:p.Asp1060Val
ENST00000673867.1:n.3552A>T
ENST00000674126.1:n.3776A>T
ENST00000674147.1:c.2348A>T	ENSP00000500964.1:p.Asp783Val
ENST00000242839.8:c.3413A>T	ENSP00000242839.4:p.Asp1138Val
ENST00000344297.8:c.2792A>T	ENSP00000342559.5:p.Asp931Val
ENST00000400366.5:c.3080A>T	ENSP00000383217.3:p.Asp1027Val
ENST00000400370.8:c.2123A>T	ENSP00000383221.3:p.Asp708Val
ENST00000418097.7:c.3218A>T	ENSP00000393343.2:p.Asp1073Val
ENST00000448424.6:c.3179A>T	ENSP00000416738.2:p.Asp1060Val
ENST00000634296.1:c.1191A>T
ENST00000634308.1:c.*514A>T	ENSP00000489234.1:n.*514A>T
ENST00000634620.1:n.4157A>T
ENST00000634810.1:n.2758A>T
ENST00000634844.1:c.3269A>T	ENSP00000489398.1:p.Asp1090Val
NM_000053.3:c.3413A>T	NP_000044.2:p.Asp1138Val
NM_001005918.2:c.2792A>T	NP_001005918.1:p.Asp931Val
NM_001243182.1:c.3080A>T	NP_001230111.1:p.Asp1027Val
XM_005266423.2:c.3317A>T	XP_005266480.1:p.Asp1106Val
XM_005266424.3:c.3317A>T	XP_005266481.1:p.Asp1106Val
XM_005266427.2:c.3179A>T	XP_005266484.1:p.Asp1060Val
XM_005266428.1:c.3161A>T	XP_005266485.1:p.Asp1054Val
XM_005266430.3:c.3413A>T	XP_005266487.1:p.Asp1138Val
XM_005266431.2:c.3377A>T	XP_005266488.1:p.Asp1126Val
XM_005266432.2:c.2927A>T	XP_005266489.1:p.Asp976Val
XM_006719837.2:c.3317A>T	XP_006719900.1:p.Asp1106Val
XM_006719838.1:c.1229A>T	XP_006719901.1:p.Asp410Val
XM_006719839.1:c.1046A>T	XP_006719902.1:p.Asp349Val
XM_011535117.1:c.3317A>T	XP_011533419.1:p.Asp1106Val
XM_011535118.1:c.3278A>T	XP_011533420.1:p.Asp1093Val
XM_011535119.1:c.3230A>T	XP_011533421.1:p.Asp1077Val
XM_011535120.1:c.2999A>T	XP_011533422.1:p.Asp1000Val
XM_011535121.1:c.2900A>T	XP_011533423.1:p.Asp967Val
XM_011535122.1:c.2081A>T	XP_011533424.1:p.Asp694Val
XR_941601.1:n.3632A>T
XR_941602.1:n.3632A>T
XR_941603.1:n.3632A>T
XR_941604.1:n.3632A>T
NM_001330578.1:c.3179A>T	NP_001317507.1:p.Asp1060Val
NM_001330579.1:c.3161A>T	NP_001317508.1:p.Asp1054Val
XM_005266424.4:c.3317A>T	XP_005266481.1:p.Asp1106Val
XM_005266430.4:c.3413A>T	XP_005266487.1:p.Asp1138Val
XM_005266431.4:c.3377A>T	XP_005266488.1:p.Asp1126Val
XM_006719837.3:c.3317A>T	XP_006719900.1:p.Asp1106Val
XM_011535117.3:c.3317A>T	XP_011533419.1:p.Asp1106Val
XM_017020627.1:c.3317A>T	XP_016876116.1:p.Asp1106Val
NM_000053.4:c.3413A>T MANE Select	NP_000044.2:p.Asp1138Val
NM_001005918.3:c.2792A>T	NP_001005918.1:p.Asp931Val
NM_001330579.2:c.3161A>T	NP_001317508.1:p.Asp1054Val
NM_001243182.2:c.3080A>T	NP_001230111.1:p.Asp1027Val
NM_001330578.2:c.3179A>T	NP_001317507.1:p.Asp1060Val