Canonical Allele Identifier: CA2091554116

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937593G= , CM000675.2:g.51937593G=	GRCh38
NC_000013.10:g.52511729G= , CM000675.1:g.52511729G=	GRCh37
NC_000013.9:g.51409730G=	NCBI36
NG_008806.1:g.78902C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1436C=	ENSP00000489512.2:n.*1436C=
ENST00000673864.2:c.*2530C=	ENSP00000501045.2:n.*2530C=
ENST00000674147.2:c.3165C=	ENSP00000500964.2:p.Val1055=
ENST00000242839.10:c.3786C= MANE Select	ENSP00000242839.5:p.Val1262=
ENST00000344297.9:c.3165C=	ENSP00000342559.5:p.Val1055=
ENST00000400366.6:c.3453C=	ENSP00000383217.3:p.Val1151=
ENST00000448424.7:c.3534C=	ENSP00000416738.3:p.Val1178=
ENST00000673696.1:n.1027C=
ENST00000673772.1:c.3552C=	ENSP00000501168.1:p.Val1184=
ENST00000673867.1:n.3925C=
ENST00000673923.1:n.652C=
ENST00000674147.1:c.2721C=	ENSP00000500964.1:p.Val907=
ENST00000242839.8:c.3786C=	ENSP00000242839.4:p.Val1262=
ENST00000344297.8:c.3165C=	ENSP00000342559.5:p.Val1055=
ENST00000400366.5:c.3453C=	ENSP00000383217.3:p.Val1151=
ENST00000400370.8:c.2496C=	ENSP00000383221.3:p.Val832=
ENST00000418097.7:c.3591C=	ENSP00000393343.2:p.Val1197=
ENST00000448424.6:c.3552C=	ENSP00000416738.2:p.Val1184=
ENST00000634296.1:c.1564C=
ENST00000634308.1:c.*887C=	ENSP00000489234.1:n.*887C=
ENST00000634620.1:n.4530C=
ENST00000634810.1:n.3131C=
ENST00000634844.1:c.3642C=	ENSP00000489398.1:p.Val1214=
NM_000053.3:c.3786C=	NP_000044.2:p.Val1262=
NM_001005918.2:c.3165C=	NP_001005918.1:p.Val1055=
NM_001243182.1:c.3453C=	NP_001230111.1:p.Val1151=
XM_005266423.2:c.3690C=	XP_005266480.1:p.Val1230=
XM_005266424.3:c.3690C=	XP_005266481.1:p.Val1230=
XM_005266427.2:c.3552C=	XP_005266484.1:p.Val1184=
XM_005266428.1:c.3534C=	XP_005266485.1:p.Val1178=
XM_005266430.3:c.3786C=	XP_005266487.1:p.Val1262=
XM_005266431.2:c.3750C=	XP_005266488.1:p.Val1250=
XM_005266432.2:c.3300C=	XP_005266489.1:p.Val1100=
XM_006719837.2:c.3690C=	XP_006719900.1:p.Val1230=
XM_006719838.1:c.1602C=	XP_006719901.1:p.Val534=
XM_006719839.1:c.1419C=	XP_006719902.1:p.Val473=
XM_011535117.1:c.3690C=	XP_011533419.1:p.Val1230=
XM_011535118.1:c.3651C=	XP_011533420.1:p.Val1217=
XM_011535119.1:c.3603C=	XP_011533421.1:p.Val1201=
XM_011535120.1:c.3372C=	XP_011533422.1:p.Val1124=
XM_011535121.1:c.3273C=	XP_011533423.1:p.Val1091=
XM_011535122.1:c.2454C=	XP_011533424.1:p.Val818=
XR_941601.1:n.4005C=
XR_941602.1:n.4005C=
XR_941603.1:n.4005C=
XR_941604.1:n.4005C=
NM_001330578.1:c.3552C=	NP_001317507.1:p.Val1184=
NM_001330579.1:c.3534C=	NP_001317508.1:p.Val1178=
XM_005266424.4:c.3690C=	XP_005266481.1:p.Val1230=
XM_005266430.4:c.3786C=	XP_005266487.1:p.Val1262=
XM_005266431.4:c.3750C=	XP_005266488.1:p.Val1250=
XM_006719837.3:c.3690C=	XP_006719900.1:p.Val1230=
XM_011535117.3:c.3690C=	XP_011533419.1:p.Val1230=
XM_017020627.1:c.3690C=	XP_016876116.1:p.Val1230=
NM_000053.4:c.3786C= MANE Select	NP_000044.2:p.Val1262=
NM_001005918.3:c.3165C=	NP_001005918.1:p.Val1055=
NM_001330579.2:c.3534C=	NP_001317508.1:p.Val1178=
NM_001243182.2:c.3453C=	NP_001230111.1:p.Val1151=
NM_001330578.2:c.3552C=	NP_001317507.1:p.Val1184=