Canonical Allele Identifier: CA2091566117

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946284C= , CM000675.2:g.51946284C=	GRCh38
NC_000013.10:g.52520420C= , CM000675.1:g.52520420C=	GRCh37
NC_000013.9:g.51418421C=	NCBI36
NG_008806.1:g.70211G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*893G=	ENSP00000489512.2:n.*893G=
ENST00000673864.2:c.*1804G=	ENSP00000501045.2:n.*1804G=
ENST00000674147.2:c.2439G=	ENSP00000500964.2:p.Lys813=
ENST00000242839.10:c.3060G= MANE Select	ENSP00000242839.5:p.Lys1020=
ENST00000344297.9:c.2439G=	ENSP00000342559.5:p.Lys813=
ENST00000400366.6:c.2727G=	ENSP00000383217.3:p.Lys909=
ENST00000448424.7:c.2808G=	ENSP00000416738.3:p.Lys936=
ENST00000673772.1:c.2826G=	ENSP00000501168.1:p.Lys942=
ENST00000673867.1:n.1207G=
ENST00000674126.1:n.3423G=
ENST00000674147.1:c.1995G=	ENSP00000500964.1:p.Lys665=
ENST00000242839.8:c.3060G=	ENSP00000242839.4:p.Lys1020=
ENST00000344297.8:c.2439G=	ENSP00000342559.5:p.Lys813=
ENST00000400366.5:c.2727G=	ENSP00000383217.3:p.Lys909=
ENST00000400370.8:c.1770G=	ENSP00000383221.3:p.Lys590=
ENST00000418097.7:c.2866-1993G=	ENSP00000393343.2:n.2866-1993G=
ENST00000448424.6:c.2826G=	ENSP00000416738.2:p.Lys942=
ENST00000466629.1:n.280G=
ENST00000634296.1:c.1021G=
ENST00000634308.1:c.*161G=	ENSP00000489234.1:n.*161G=
ENST00000634620.1:n.3804G=
ENST00000634810.1:n.2405G=
ENST00000634844.1:c.2916G=	ENSP00000489398.1:p.Lys972=
ENST00000635406.1:n.406G=
NM_000053.3:c.3060G=	NP_000044.2:p.Lys1020=
NM_001005918.2:c.2439G=	NP_001005918.1:p.Lys813=
NM_001243182.1:c.2727G=	NP_001230111.1:p.Lys909=
XM_005266423.2:c.2964G=	XP_005266480.1:p.Lys988=
XM_005266424.3:c.2964G=	XP_005266481.1:p.Lys988=
XM_005266427.2:c.2826G=	XP_005266484.1:p.Lys942=
XM_005266428.1:c.2808G=	XP_005266485.1:p.Lys936=
XM_005266430.3:c.3060G=	XP_005266487.1:p.Lys1020=
XM_005266431.2:c.3024G=	XP_005266488.1:p.Lys1008=
XM_005266432.2:c.2574G=	XP_005266489.1:p.Lys858=
XM_006719837.2:c.2964G=	XP_006719900.1:p.Lys988=
XM_006719838.1:c.876G=	XP_006719901.1:p.Lys292=
XM_006719839.1:c.876G=	XP_006719902.1:p.Lys292=
XM_011535117.1:c.2964G=	XP_011533419.1:p.Lys988=
XM_011535118.1:c.2925G=	XP_011533420.1:p.Lys975=
XM_011535119.1:c.3060G=	XP_011533421.1:p.Lys1020=
XM_011535120.1:c.2646G=	XP_011533422.1:p.Lys882=
XM_011535121.1:c.2730+3723G=	XP_011533423.1:n.2730+3723G=
XM_011535122.1:c.1728G=	XP_011533424.1:p.Lys576=
XR_941601.1:n.3279G=
XR_941602.1:n.3279G=
XR_941603.1:n.3279G=
XR_941604.1:n.3279G=
NM_001330578.1:c.2826G=	NP_001317507.1:p.Lys942=
NM_001330579.1:c.2808G=	NP_001317508.1:p.Lys936=
XM_005266424.4:c.2964G=	XP_005266481.1:p.Lys988=
XM_005266430.4:c.3060G=	XP_005266487.1:p.Lys1020=
XM_005266431.4:c.3024G=	XP_005266488.1:p.Lys1008=
XM_006719837.3:c.2964G=	XP_006719900.1:p.Lys988=
XM_011535117.3:c.2964G=	XP_011533419.1:p.Lys988=
XM_017020627.1:c.2964G=	XP_016876116.1:p.Lys988=
NM_000053.4:c.3060G= MANE Select	NP_000044.2:p.Lys1020=
NM_001005918.3:c.2439G=	NP_001005918.1:p.Lys813=
NM_001330579.2:c.2808G=	NP_001317508.1:p.Lys936=
NM_001243182.2:c.2727G=	NP_001230111.1:p.Lys909=
NM_001330578.2:c.2826G=	NP_001317507.1:p.Lys942=