Canonical Allele Identifier: CA2091564242

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944278A= , CM000675.2:g.51944278A=	GRCh38
NC_000013.10:g.52518414A= , CM000675.1:g.52518414A=	GRCh37
NC_000013.9:g.51416415A=	NCBI36
NG_008806.1:g.72217T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1724T=	ENSP00000489512.2:n.*894-1724T=
ENST00000673864.2:c.*1818T=	ENSP00000501045.2:n.*1818T=
ENST00000674147.2:c.2453T=	ENSP00000500964.2:p.Met818=
ENST00000242839.10:c.3074T= MANE Select	ENSP00000242839.5:p.Met1025=
ENST00000344297.9:c.2453T=	ENSP00000342559.5:p.Met818=
ENST00000400366.6:c.2741T=	ENSP00000383217.3:p.Met914=
ENST00000448424.7:c.2822T=	ENSP00000416738.3:p.Met941=
ENST00000673772.1:c.2840T=	ENSP00000501168.1:p.Met947=
ENST00000673867.1:n.3213T=
ENST00000674126.1:n.3437T=
ENST00000674147.1:c.2009T=	ENSP00000500964.1:p.Met670=
ENST00000242839.8:c.3074T=	ENSP00000242839.4:p.Met1025=
ENST00000344297.8:c.2453T=	ENSP00000342559.5:p.Met818=
ENST00000400366.5:c.2741T=	ENSP00000383217.3:p.Met914=
ENST00000400370.8:c.1784T=	ENSP00000383221.3:p.Met595=
ENST00000418097.7:c.2879T=	ENSP00000393343.2:p.Met960=
ENST00000448424.6:c.2840T=	ENSP00000416738.2:p.Met947=
ENST00000466629.1:n.294T=
ENST00000634296.1:c.1022-1724T=
ENST00000634308.1:c.*175T=	ENSP00000489234.1:n.*175T=
ENST00000634620.1:n.3818T=
ENST00000634810.1:n.2419T=
ENST00000634844.1:c.2930T=	ENSP00000489398.1:p.Met977=
ENST00000635406.1:n.420T=
NM_000053.3:c.3074T=	NP_000044.2:p.Met1025=
NM_001005918.2:c.2453T=	NP_001005918.1:p.Met818=
NM_001243182.1:c.2741T=	NP_001230111.1:p.Met914=
XM_005266423.2:c.2978T=	XP_005266480.1:p.Met993=
XM_005266424.3:c.2978T=	XP_005266481.1:p.Met993=
XM_005266427.2:c.2840T=	XP_005266484.1:p.Met947=
XM_005266428.1:c.2822T=	XP_005266485.1:p.Met941=
XM_005266430.3:c.3074T=	XP_005266487.1:p.Met1025=
XM_005266431.2:c.3038T=	XP_005266488.1:p.Met1013=
XM_005266432.2:c.2588T=	XP_005266489.1:p.Met863=
XM_006719837.2:c.2978T=	XP_006719900.1:p.Met993=
XM_006719838.1:c.890T=	XP_006719901.1:p.Met297=
XM_006719839.1:c.877-1724T=	XP_006719902.1:n.877-1724T=
XM_011535117.1:c.2978T=	XP_011533419.1:p.Met993=
XM_011535118.1:c.2939T=	XP_011533420.1:p.Met980=
XM_011535119.1:c.3061-1724T=	XP_011533421.1:n.3061-1724T=
XM_011535120.1:c.2660T=	XP_011533422.1:p.Met887=
XM_011535121.1:c.2731-1724T=	XP_011533423.1:n.2731-1724T=
XM_011535122.1:c.1742T=	XP_011533424.1:p.Met581=
XR_941601.1:n.3293T=
XR_941602.1:n.3293T=
XR_941603.1:n.3293T=
XR_941604.1:n.3293T=
NM_001330578.1:c.2840T=	NP_001317507.1:p.Met947=
NM_001330579.1:c.2822T=	NP_001317508.1:p.Met941=
XM_005266424.4:c.2978T=	XP_005266481.1:p.Met993=
XM_005266430.4:c.3074T=	XP_005266487.1:p.Met1025=
XM_005266431.4:c.3038T=	XP_005266488.1:p.Met1013=
XM_006719837.3:c.2978T=	XP_006719900.1:p.Met993=
XM_011535117.3:c.2978T=	XP_011533419.1:p.Met993=
XM_017020627.1:c.2978T=	XP_016876116.1:p.Met993=
NM_000053.4:c.3074T= MANE Select	NP_000044.2:p.Met1025=
NM_001005918.3:c.2453T=	NP_001005918.1:p.Met818=
NM_001330579.2:c.2822T=	NP_001317508.1:p.Met941=
NM_001243182.2:c.2741T=	NP_001230111.1:p.Met914=
NM_001330578.2:c.2840T=	NP_001317507.1:p.Met947=