Canonical Allele Identifier: CA2091554110

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937589T= , CM000675.2:g.51937589T=	GRCh38
NC_000013.10:g.52511725T= , CM000675.1:g.52511725T=	GRCh37
NC_000013.9:g.51409726T=	NCBI36
NG_008806.1:g.78906A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1440A=	ENSP00000489512.2:n.*1440A=
ENST00000673864.2:c.*2534A=	ENSP00000501045.2:n.*2534A=
ENST00000674147.2:c.3169A=	ENSP00000500964.2:p.Met1057=
ENST00000242839.10:c.3790A= MANE Select	ENSP00000242839.5:p.Met1264=
ENST00000344297.9:c.3169A=	ENSP00000342559.5:p.Met1057=
ENST00000400366.6:c.3457A=	ENSP00000383217.3:p.Met1153=
ENST00000448424.7:c.3538A=	ENSP00000416738.3:p.Met1180=
ENST00000673696.1:n.1031A=
ENST00000673772.1:c.3556A=	ENSP00000501168.1:p.Met1186=
ENST00000673867.1:n.3929A=
ENST00000673923.1:n.656A=
ENST00000674147.1:c.2725A=	ENSP00000500964.1:p.Met909=
ENST00000242839.8:c.3790A=	ENSP00000242839.4:p.Met1264=
ENST00000344297.8:c.3169A=	ENSP00000342559.5:p.Met1057=
ENST00000400366.5:c.3457A=	ENSP00000383217.3:p.Met1153=
ENST00000400370.8:c.2500A=	ENSP00000383221.3:p.Met834=
ENST00000418097.7:c.3595A=	ENSP00000393343.2:p.Met1199=
ENST00000448424.6:c.3556A=	ENSP00000416738.2:p.Met1186=
ENST00000634296.1:c.1568A=
ENST00000634308.1:c.*891A=	ENSP00000489234.1:n.*891A=
ENST00000634620.1:n.4534A=
ENST00000634810.1:n.3135A=
ENST00000634844.1:c.3646A=	ENSP00000489398.1:p.Met1216=
NM_000053.3:c.3790A=	NP_000044.2:p.Met1264=
NM_001005918.2:c.3169A=	NP_001005918.1:p.Met1057=
NM_001243182.1:c.3457A=	NP_001230111.1:p.Met1153=
XM_005266423.2:c.3694A=	XP_005266480.1:p.Met1232=
XM_005266424.3:c.3694A=	XP_005266481.1:p.Met1232=
XM_005266427.2:c.3556A=	XP_005266484.1:p.Met1186=
XM_005266428.1:c.3538A=	XP_005266485.1:p.Met1180=
XM_005266430.3:c.3790A=	XP_005266487.1:p.Met1264=
XM_005266431.2:c.3754A=	XP_005266488.1:p.Met1252=
XM_005266432.2:c.3304A=	XP_005266489.1:p.Met1102=
XM_006719837.2:c.3694A=	XP_006719900.1:p.Met1232=
XM_006719838.1:c.1606A=	XP_006719901.1:p.Met536=
XM_006719839.1:c.1423A=	XP_006719902.1:p.Met475=
XM_011535117.1:c.3694A=	XP_011533419.1:p.Met1232=
XM_011535118.1:c.3655A=	XP_011533420.1:p.Met1219=
XM_011535119.1:c.3607A=	XP_011533421.1:p.Met1203=
XM_011535120.1:c.3376A=	XP_011533422.1:p.Met1126=
XM_011535121.1:c.3277A=	XP_011533423.1:p.Met1093=
XM_011535122.1:c.2458A=	XP_011533424.1:p.Met820=
XR_941601.1:n.4009A=
XR_941602.1:n.4009A=
XR_941603.1:n.4009A=
XR_941604.1:n.4009A=
NM_001330578.1:c.3556A=	NP_001317507.1:p.Met1186=
NM_001330579.1:c.3538A=	NP_001317508.1:p.Met1180=
XM_005266424.4:c.3694A=	XP_005266481.1:p.Met1232=
XM_005266430.4:c.3790A=	XP_005266487.1:p.Met1264=
XM_005266431.4:c.3754A=	XP_005266488.1:p.Met1252=
XM_006719837.3:c.3694A=	XP_006719900.1:p.Met1232=
XM_011535117.3:c.3694A=	XP_011533419.1:p.Met1232=
XM_017020627.1:c.3694A=	XP_016876116.1:p.Met1232=
NM_000053.4:c.3790A= MANE Select	NP_000044.2:p.Met1264=
NM_001005918.3:c.3169A=	NP_001005918.1:p.Met1057=
NM_001330579.2:c.3538A=	NP_001317508.1:p.Met1180=
NM_001243182.2:c.3457A=	NP_001230111.1:p.Met1153=
NM_001330578.2:c.3556A=	NP_001317507.1:p.Met1186=