Canonical Allele Identifier: CA2091561623

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942518A= , CM000675.2:g.51942518A=	GRCh38
NC_000013.10:g.52516654A= , CM000675.1:g.52516654A=	GRCh37
NC_000013.9:g.51414655A=	NCBI36
NG_008806.1:g.73977T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*930T=	ENSP00000489512.2:n.*930T=
ENST00000673864.2:c.*2024T=	ENSP00000501045.2:n.*2024T=
ENST00000674147.2:c.2659T=	ENSP00000500964.2:p.Phe887=
ENST00000242839.10:c.3280T= MANE Select	ENSP00000242839.5:p.Phe1094=
ENST00000344297.9:c.2659T=	ENSP00000342559.5:p.Phe887=
ENST00000400366.6:c.2947T=	ENSP00000383217.3:p.Phe983=
ENST00000448424.7:c.3028T=	ENSP00000416738.3:p.Phe1010=
ENST00000673772.1:c.3046T=	ENSP00000501168.1:p.Phe1016=
ENST00000673867.1:n.3419T=
ENST00000674126.1:n.3643T=
ENST00000674147.1:c.2215T=	ENSP00000500964.1:p.Phe739=
ENST00000242839.8:c.3280T=	ENSP00000242839.4:p.Phe1094=
ENST00000344297.8:c.2659T=	ENSP00000342559.5:p.Phe887=
ENST00000400366.5:c.2947T=	ENSP00000383217.3:p.Phe983=
ENST00000400370.8:c.1990T=	ENSP00000383221.3:p.Phe664=
ENST00000418097.7:c.3085T=	ENSP00000393343.2:p.Phe1029=
ENST00000448424.6:c.3046T=	ENSP00000416738.2:p.Phe1016=
ENST00000634296.1:c.1058T=
ENST00000634308.1:c.*381T=	ENSP00000489234.1:n.*381T=
ENST00000634620.1:n.4024T=
ENST00000634810.1:n.2625T=
ENST00000634844.1:c.3136T=	ENSP00000489398.1:p.Phe1046=
NM_000053.3:c.3280T=	NP_000044.2:p.Phe1094=
NM_001005918.2:c.2659T=	NP_001005918.1:p.Phe887=
NM_001243182.1:c.2947T=	NP_001230111.1:p.Phe983=
XM_005266423.2:c.3184T=	XP_005266480.1:p.Phe1062=
XM_005266424.3:c.3184T=	XP_005266481.1:p.Phe1062=
XM_005266427.2:c.3046T=	XP_005266484.1:p.Phe1016=
XM_005266428.1:c.3028T=	XP_005266485.1:p.Phe1010=
XM_005266430.3:c.3280T=	XP_005266487.1:p.Phe1094=
XM_005266431.2:c.3244T=	XP_005266488.1:p.Phe1082=
XM_005266432.2:c.2794T=	XP_005266489.1:p.Phe932=
XM_006719837.2:c.3184T=	XP_006719900.1:p.Phe1062=
XM_006719838.1:c.1096T=	XP_006719901.1:p.Phe366=
XM_006719839.1:c.913T=	XP_006719902.1:p.Phe305=
XM_011535117.1:c.3184T=	XP_011533419.1:p.Phe1062=
XM_011535118.1:c.3145T=	XP_011533420.1:p.Phe1049=
XM_011535119.1:c.3097T=	XP_011533421.1:p.Phe1033=
XM_011535120.1:c.2866T=	XP_011533422.1:p.Phe956=
XM_011535121.1:c.2767T=	XP_011533423.1:p.Phe923=
XM_011535122.1:c.1948T=	XP_011533424.1:p.Phe650=
XR_941601.1:n.3499T=
XR_941602.1:n.3499T=
XR_941603.1:n.3499T=
XR_941604.1:n.3499T=
NM_001330578.1:c.3046T=	NP_001317507.1:p.Phe1016=
NM_001330579.1:c.3028T=	NP_001317508.1:p.Phe1010=
XM_005266424.4:c.3184T=	XP_005266481.1:p.Phe1062=
XM_005266430.4:c.3280T=	XP_005266487.1:p.Phe1094=
XM_005266431.4:c.3244T=	XP_005266488.1:p.Phe1082=
XM_006719837.3:c.3184T=	XP_006719900.1:p.Phe1062=
XM_011535117.3:c.3184T=	XP_011533419.1:p.Phe1062=
XM_017020627.1:c.3184T=	XP_016876116.1:p.Phe1062=
NM_000053.4:c.3280T= MANE Select	NP_000044.2:p.Phe1094=
NM_001005918.3:c.2659T=	NP_001005918.1:p.Phe887=
NM_001330579.2:c.3028T=	NP_001317508.1:p.Phe1010=
NM_001243182.2:c.2947T=	NP_001230111.1:p.Phe983=
NM_001330578.2:c.3046T=	NP_001317507.1:p.Phe1016=