Canonical Allele Identifier: CA2091566167

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946368G= , CM000675.2:g.51946368G=	GRCh38
NC_000013.10:g.52520504G= , CM000675.1:g.52520504G=	GRCh37
NC_000013.9:g.51418505G=	NCBI36
NG_008806.1:g.70127C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*809C=	ENSP00000489512.2:n.*809C=
ENST00000673864.2:c.*1720C=	ENSP00000501045.2:n.*1720C=
ENST00000674147.2:c.2355C=	ENSP00000500964.2:p.Pro785=
ENST00000242839.10:c.2976C= MANE Select	ENSP00000242839.5:p.Pro992=
ENST00000344297.9:c.2355C=	ENSP00000342559.5:p.Pro785=
ENST00000400366.6:c.2643C=	ENSP00000383217.3:p.Pro881=
ENST00000448424.7:c.2724C=	ENSP00000416738.3:p.Pro908=
ENST00000673772.1:c.2742C=	ENSP00000501168.1:p.Pro914=
ENST00000673867.1:n.1123C=
ENST00000674126.1:n.3339C=
ENST00000674147.1:c.1911C=	ENSP00000500964.1:p.Pro637=
ENST00000242839.8:c.2976C=	ENSP00000242839.4:p.Pro992=
ENST00000344297.8:c.2355C=	ENSP00000342559.5:p.Pro785=
ENST00000400366.5:c.2643C=	ENSP00000383217.3:p.Pro881=
ENST00000400370.8:c.1686C=	ENSP00000383221.3:p.Pro562=
ENST00000418097.7:c.2866-2077C=	ENSP00000393343.2:n.2866-2077C=
ENST00000448424.6:c.2742C=	ENSP00000416738.2:p.Pro914=
ENST00000466629.1:n.196C=
ENST00000634296.1:c.937C=
ENST00000634308.1:c.*77C=	ENSP00000489234.1:n.*77C=
ENST00000634620.1:n.3720C=
ENST00000634810.1:n.2321C=
ENST00000634844.1:c.2832C=	ENSP00000489398.1:p.Pro944=
ENST00000635406.1:n.322C=
NM_000053.3:c.2976C=	NP_000044.2:p.Pro992=
NM_001005918.2:c.2355C=	NP_001005918.1:p.Pro785=
NM_001243182.1:c.2643C=	NP_001230111.1:p.Pro881=
XM_005266423.2:c.2880C=	XP_005266480.1:p.Pro960=
XM_005266424.3:c.2880C=	XP_005266481.1:p.Pro960=
XM_005266427.2:c.2742C=	XP_005266484.1:p.Pro914=
XM_005266428.1:c.2724C=	XP_005266485.1:p.Pro908=
XM_005266430.3:c.2976C=	XP_005266487.1:p.Pro992=
XM_005266431.2:c.2940C=	XP_005266488.1:p.Pro980=
XM_005266432.2:c.2490C=	XP_005266489.1:p.Pro830=
XM_006719837.2:c.2880C=	XP_006719900.1:p.Pro960=
XM_006719838.1:c.792C=	XP_006719901.1:p.Pro264=
XM_006719839.1:c.792C=	XP_006719902.1:p.Pro264=
XM_011535117.1:c.2880C=	XP_011533419.1:p.Pro960=
XM_011535118.1:c.2841C=	XP_011533420.1:p.Pro947=
XM_011535119.1:c.2976C=	XP_011533421.1:p.Pro992=
XM_011535120.1:c.2562C=	XP_011533422.1:p.Pro854=
XM_011535121.1:c.2730+3639C=	XP_011533423.1:n.2730+3639C=
XM_011535122.1:c.1644C=	XP_011533424.1:p.Pro548=
XR_941601.1:n.3195C=
XR_941602.1:n.3195C=
XR_941603.1:n.3195C=
XR_941604.1:n.3195C=
NM_001330578.1:c.2742C=	NP_001317507.1:p.Pro914=
NM_001330579.1:c.2724C=	NP_001317508.1:p.Pro908=
XM_005266424.4:c.2880C=	XP_005266481.1:p.Pro960=
XM_005266430.4:c.2976C=	XP_005266487.1:p.Pro992=
XM_005266431.4:c.2940C=	XP_005266488.1:p.Pro980=
XM_006719837.3:c.2880C=	XP_006719900.1:p.Pro960=
XM_011535117.3:c.2880C=	XP_011533419.1:p.Pro960=
XM_017020627.1:c.2880C=	XP_016876116.1:p.Pro960=
NM_000053.4:c.2976C= MANE Select	NP_000044.2:p.Pro992=
NM_001005918.3:c.2355C=	NP_001005918.1:p.Pro785=
NM_001330579.2:c.2724C=	NP_001317508.1:p.Pro908=
NM_001243182.2:c.2643C=	NP_001230111.1:p.Pro881=
NM_001330578.2:c.2742C=	NP_001317507.1:p.Pro914=