Canonical Allele Identifier: CA2091553720

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937490C= , CM000675.2:g.51937490C=	GRCh38
NC_000013.10:g.52511626C= , CM000675.1:g.52511626C=	GRCh37
NC_000013.9:g.51409627C=	NCBI36
NG_008806.1:g.79005G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1539G=	ENSP00000489512.2:n.*1539G=
ENST00000673864.2:c.*2633G=	ENSP00000501045.2:n.*2633G=
ENST00000674147.2:c.3268G=	ENSP00000500964.2:p.Val1090=
ENST00000242839.10:c.3889G= MANE Select	ENSP00000242839.5:p.Val1297=
ENST00000344297.9:c.3268G=	ENSP00000342559.5:p.Val1090=
ENST00000400366.6:c.3556G=	ENSP00000383217.3:p.Val1186=
ENST00000448424.7:c.3637G=	ENSP00000416738.3:p.Val1213=
ENST00000673696.1:n.1130G=
ENST00000673772.1:c.3655G=	ENSP00000501168.1:p.Val1219=
ENST00000673867.1:n.4028G=
ENST00000673923.1:n.755G=
ENST00000674147.1:c.2824G=	ENSP00000500964.1:p.Val942=
ENST00000242839.8:c.3889G=	ENSP00000242839.4:p.Val1297=
ENST00000344297.8:c.3268G=	ENSP00000342559.5:p.Val1090=
ENST00000400366.5:c.3556G=	ENSP00000383217.3:p.Val1186=
ENST00000400370.8:c.2599G=	ENSP00000383221.3:p.Val867=
ENST00000418097.7:c.3694G=	ENSP00000393343.2:p.Val1232=
ENST00000448424.6:c.3655G=	ENSP00000416738.2:p.Val1219=
ENST00000634296.1:c.1667G=
ENST00000634308.1:c.*990G=	ENSP00000489234.1:n.*990G=
ENST00000634620.1:n.4633G=
ENST00000634810.1:n.3234G=
ENST00000634844.1:c.3745G=	ENSP00000489398.1:p.Val1249=
NM_000053.3:c.3889G=	NP_000044.2:p.Val1297=
NM_001005918.2:c.3268G=	NP_001005918.1:p.Val1090=
NM_001243182.1:c.3556G=	NP_001230111.1:p.Val1186=
XM_005266423.2:c.3793G=	XP_005266480.1:p.Val1265=
XM_005266424.3:c.3793G=	XP_005266481.1:p.Val1265=
XM_005266427.2:c.3655G=	XP_005266484.1:p.Val1219=
XM_005266428.1:c.3637G=	XP_005266485.1:p.Val1213=
XM_005266430.3:c.3889G=	XP_005266487.1:p.Val1297=
XM_005266431.2:c.3853G=	XP_005266488.1:p.Val1285=
XM_005266432.2:c.3403G=	XP_005266489.1:p.Val1135=
XM_006719837.2:c.3793G=	XP_006719900.1:p.Val1265=
XM_006719838.1:c.1705G=	XP_006719901.1:p.Val569=
XM_006719839.1:c.1522G=	XP_006719902.1:p.Val508=
XM_011535117.1:c.3793G=	XP_011533419.1:p.Val1265=
XM_011535118.1:c.3754G=	XP_011533420.1:p.Val1252=
XM_011535119.1:c.3706G=	XP_011533421.1:p.Val1236=
XM_011535120.1:c.3475G=	XP_011533422.1:p.Val1159=
XM_011535121.1:c.3376G=	XP_011533423.1:p.Val1126=
XM_011535122.1:c.2557G=	XP_011533424.1:p.Val853=
XR_941601.1:n.4108G=
XR_941602.1:n.4108G=
XR_941603.1:n.4108G=
XR_941604.1:n.4108G=
NM_001330578.1:c.3655G=	NP_001317507.1:p.Val1219=
NM_001330579.1:c.3637G=	NP_001317508.1:p.Val1213=
XM_005266424.4:c.3793G=	XP_005266481.1:p.Val1265=
XM_005266430.4:c.3889G=	XP_005266487.1:p.Val1297=
XM_005266431.4:c.3853G=	XP_005266488.1:p.Val1285=
XM_006719837.3:c.3793G=	XP_006719900.1:p.Val1265=
XM_011535117.3:c.3793G=	XP_011533419.1:p.Val1265=
XM_017020627.1:c.3793G=	XP_016876116.1:p.Val1265=
NM_000053.4:c.3889G= MANE Select	NP_000044.2:p.Val1297=
NM_001005918.3:c.3268G=	NP_001005918.1:p.Val1090=
NM_001330579.2:c.3637G=	NP_001317508.1:p.Val1213=
NM_001243182.2:c.3556G=	NP_001230111.1:p.Val1186=
NM_001330578.2:c.3655G=	NP_001317507.1:p.Val1219=