Canonical Allele Identifier: CA2091563949

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944199C= , CM000675.2:g.51944199C=	GRCh38
NC_000013.10:g.52518335C= , CM000675.1:g.52518335C=	GRCh37
NC_000013.9:g.51416336C=	NCBI36
NG_008806.1:g.72296G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1645G=	ENSP00000489512.2:n.*894-1645G=
ENST00000673864.2:c.*1897G=	ENSP00000501045.2:n.*1897G=
ENST00000674147.2:c.2532G=	ENSP00000500964.2:p.Leu844=
ENST00000242839.10:c.3153G= MANE Select	ENSP00000242839.5:p.Leu1051=
ENST00000344297.9:c.2532G=	ENSP00000342559.5:p.Leu844=
ENST00000400366.6:c.2820G=	ENSP00000383217.3:p.Leu940=
ENST00000448424.7:c.2901G=	ENSP00000416738.3:p.Leu967=
ENST00000673772.1:c.2919G=	ENSP00000501168.1:p.Leu973=
ENST00000673867.1:n.3292G=
ENST00000674126.1:n.3516G=
ENST00000674147.1:c.2088G=	ENSP00000500964.1:p.Leu696=
ENST00000242839.8:c.3153G=	ENSP00000242839.4:p.Leu1051=
ENST00000344297.8:c.2532G=	ENSP00000342559.5:p.Leu844=
ENST00000400366.5:c.2820G=	ENSP00000383217.3:p.Leu940=
ENST00000400370.8:c.1863G=	ENSP00000383221.3:p.Leu621=
ENST00000418097.7:c.2958G=	ENSP00000393343.2:p.Leu986=
ENST00000448424.6:c.2919G=	ENSP00000416738.2:p.Leu973=
ENST00000466629.1:n.373G=
ENST00000634296.1:c.1022-1645G=
ENST00000634308.1:c.*254G=	ENSP00000489234.1:n.*254G=
ENST00000634620.1:n.3897G=
ENST00000634810.1:n.2498G=
ENST00000634844.1:c.3009G=	ENSP00000489398.1:p.Leu1003=
ENST00000635406.1:n.499G=
NM_000053.3:c.3153G=	NP_000044.2:p.Leu1051=
NM_001005918.2:c.2532G=	NP_001005918.1:p.Leu844=
NM_001243182.1:c.2820G=	NP_001230111.1:p.Leu940=
XM_005266423.2:c.3057G=	XP_005266480.1:p.Leu1019=
XM_005266424.3:c.3057G=	XP_005266481.1:p.Leu1019=
XM_005266427.2:c.2919G=	XP_005266484.1:p.Leu973=
XM_005266428.1:c.2901G=	XP_005266485.1:p.Leu967=
XM_005266430.3:c.3153G=	XP_005266487.1:p.Leu1051=
XM_005266431.2:c.3117G=	XP_005266488.1:p.Leu1039=
XM_005266432.2:c.2667G=	XP_005266489.1:p.Leu889=
XM_006719837.2:c.3057G=	XP_006719900.1:p.Leu1019=
XM_006719838.1:c.969G=	XP_006719901.1:p.Leu323=
XM_006719839.1:c.877-1645G=	XP_006719902.1:n.877-1645G=
XM_011535117.1:c.3057G=	XP_011533419.1:p.Leu1019=
XM_011535118.1:c.3018G=	XP_011533420.1:p.Leu1006=
XM_011535119.1:c.3061-1645G=	XP_011533421.1:n.3061-1645G=
XM_011535120.1:c.2739G=	XP_011533422.1:p.Leu913=
XM_011535121.1:c.2731-1645G=	XP_011533423.1:n.2731-1645G=
XM_011535122.1:c.1821G=	XP_011533424.1:p.Leu607=
XR_941601.1:n.3372G=
XR_941602.1:n.3372G=
XR_941603.1:n.3372G=
XR_941604.1:n.3372G=
NM_001330578.1:c.2919G=	NP_001317507.1:p.Leu973=
NM_001330579.1:c.2901G=	NP_001317508.1:p.Leu967=
XM_005266424.4:c.3057G=	XP_005266481.1:p.Leu1019=
XM_005266430.4:c.3153G=	XP_005266487.1:p.Leu1051=
XM_005266431.4:c.3117G=	XP_005266488.1:p.Leu1039=
XM_006719837.3:c.3057G=	XP_006719900.1:p.Leu1019=
XM_011535117.3:c.3057G=	XP_011533419.1:p.Leu1019=
XM_017020627.1:c.3057G=	XP_016876116.1:p.Leu1019=
NM_000053.4:c.3153G= MANE Select	NP_000044.2:p.Leu1051=
NM_001005918.3:c.2532G=	NP_001005918.1:p.Leu844=
NM_001330579.2:c.2901G=	NP_001317508.1:p.Leu967=
NM_001243182.2:c.2820G=	NP_001230111.1:p.Leu940=
NM_001330578.2:c.2919G=	NP_001317507.1:p.Leu973=