Canonical Allele Identifier: CA2091563694

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944117A= , CM000675.2:g.51944117A=	GRCh38
NC_000013.10:g.52518253A= , CM000675.1:g.52518253A=	GRCh37
NC_000013.9:g.51416254A=	NCBI36
NG_008806.1:g.72378T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1563T=	ENSP00000489512.2:n.*894-1563T=
ENST00000673864.2:c.*1979T=	ENSP00000501045.2:n.*1979T=
ENST00000674147.2:c.2614T=	ENSP00000500964.2:p.Cys872=
ENST00000242839.10:c.3235T= MANE Select	ENSP00000242839.5:p.Cys1079=
ENST00000344297.9:c.2614T=	ENSP00000342559.5:p.Cys872=
ENST00000400366.6:c.2902T=	ENSP00000383217.3:p.Cys968=
ENST00000448424.7:c.2983T=	ENSP00000416738.3:p.Cys995=
ENST00000673772.1:c.3001T=	ENSP00000501168.1:p.Cys1001=
ENST00000673867.1:n.3374T=
ENST00000674126.1:n.3598T=
ENST00000674147.1:c.2170T=	ENSP00000500964.1:p.Cys724=
ENST00000242839.8:c.3235T=	ENSP00000242839.4:p.Cys1079=
ENST00000344297.8:c.2614T=	ENSP00000342559.5:p.Cys872=
ENST00000400366.5:c.2902T=	ENSP00000383217.3:p.Cys968=
ENST00000400370.8:c.1945T=	ENSP00000383221.3:p.Cys649=
ENST00000418097.7:c.3040T=	ENSP00000393343.2:p.Cys1014=
ENST00000448424.6:c.3001T=	ENSP00000416738.2:p.Cys1001=
ENST00000466629.1:n.455T=
ENST00000634296.1:c.1022-1563T=
ENST00000634308.1:c.*336T=	ENSP00000489234.1:n.*336T=
ENST00000634620.1:n.3979T=
ENST00000634810.1:n.2580T=
ENST00000634844.1:c.3091T=	ENSP00000489398.1:p.Cys1031=
NM_000053.3:c.3235T=	NP_000044.2:p.Cys1079=
NM_001005918.2:c.2614T=	NP_001005918.1:p.Cys872=
NM_001243182.1:c.2902T=	NP_001230111.1:p.Cys968=
XM_005266423.2:c.3139T=	XP_005266480.1:p.Cys1047=
XM_005266424.3:c.3139T=	XP_005266481.1:p.Cys1047=
XM_005266427.2:c.3001T=	XP_005266484.1:p.Cys1001=
XM_005266428.1:c.2983T=	XP_005266485.1:p.Cys995=
XM_005266430.3:c.3235T=	XP_005266487.1:p.Cys1079=
XM_005266431.2:c.3199T=	XP_005266488.1:p.Cys1067=
XM_005266432.2:c.2749T=	XP_005266489.1:p.Cys917=
XM_006719837.2:c.3139T=	XP_006719900.1:p.Cys1047=
XM_006719838.1:c.1051T=	XP_006719901.1:p.Cys351=
XM_006719839.1:c.877-1563T=	XP_006719902.1:n.877-1563T=
XM_011535117.1:c.3139T=	XP_011533419.1:p.Cys1047=
XM_011535118.1:c.3100T=	XP_011533420.1:p.Cys1034=
XM_011535119.1:c.3061-1563T=	XP_011533421.1:n.3061-1563T=
XM_011535120.1:c.2821T=	XP_011533422.1:p.Cys941=
XM_011535121.1:c.2731-1563T=	XP_011533423.1:n.2731-1563T=
XM_011535122.1:c.1903T=	XP_011533424.1:p.Cys635=
XR_941601.1:n.3454T=
XR_941602.1:n.3454T=
XR_941603.1:n.3454T=
XR_941604.1:n.3454T=
NM_001330578.1:c.3001T=	NP_001317507.1:p.Cys1001=
NM_001330579.1:c.2983T=	NP_001317508.1:p.Cys995=
XM_005266424.4:c.3139T=	XP_005266481.1:p.Cys1047=
XM_005266430.4:c.3235T=	XP_005266487.1:p.Cys1079=
XM_005266431.4:c.3199T=	XP_005266488.1:p.Cys1067=
XM_006719837.3:c.3139T=	XP_006719900.1:p.Cys1047=
XM_011535117.3:c.3139T=	XP_011533419.1:p.Cys1047=
XM_017020627.1:c.3139T=	XP_016876116.1:p.Cys1047=
NM_000053.4:c.3235T= MANE Select	NP_000044.2:p.Cys1079=
NM_001005918.3:c.2614T=	NP_001005918.1:p.Cys872=
NM_001330579.2:c.2983T=	NP_001317508.1:p.Cys995=
NM_001243182.2:c.2902T=	NP_001230111.1:p.Cys968=
NM_001330578.2:c.3001T=	NP_001317507.1:p.Cys1001=