Canonical Allele Identifier: CA2091566203

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946425C= , CM000675.2:g.51946425C=	GRCh38
NC_000013.10:g.52520561C= , CM000675.1:g.52520561C=	GRCh37
NC_000013.9:g.51418562C=	NCBI36
NG_008806.1:g.70070G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*752G=	ENSP00000489512.2:n.*752G=
ENST00000673864.2:c.*1663G=	ENSP00000501045.2:n.*1663G=
ENST00000674147.2:c.2298G=	ENSP00000500964.2:p.Gln766=
ENST00000242839.10:c.2919G= MANE Select	ENSP00000242839.5:p.Gln973=
ENST00000344297.9:c.2298G=	ENSP00000342559.5:p.Gln766=
ENST00000400366.6:c.2586G=	ENSP00000383217.3:p.Gln862=
ENST00000448424.7:c.2667G=	ENSP00000416738.3:p.Gln889=
ENST00000673772.1:c.2685G=	ENSP00000501168.1:p.Gln895=
ENST00000673867.1:n.1066G=
ENST00000674126.1:n.3282G=
ENST00000674147.1:c.1854G=	ENSP00000500964.1:p.Gln618=
ENST00000242839.8:c.2919G=	ENSP00000242839.4:p.Gln973=
ENST00000344297.8:c.2298G=	ENSP00000342559.5:p.Gln766=
ENST00000400366.5:c.2586G=	ENSP00000383217.3:p.Gln862=
ENST00000400370.8:c.1629G=	ENSP00000383221.3:p.Gln543=
ENST00000418097.7:c.2866-2134G=	ENSP00000393343.2:n.2866-2134G=
ENST00000448424.6:c.2685G=	ENSP00000416738.2:p.Gln895=
ENST00000466629.1:n.139G=
ENST00000634296.1:c.880G=
ENST00000634308.1:c.*20G=	ENSP00000489234.1:n.*20G=
ENST00000634620.1:n.3663G=
ENST00000634810.1:n.2264G=
ENST00000634844.1:c.2775G=	ENSP00000489398.1:p.Gln925=
ENST00000635406.1:n.265G=
NM_000053.3:c.2919G=	NP_000044.2:p.Gln973=
NM_001005918.2:c.2298G=	NP_001005918.1:p.Gln766=
NM_001243182.1:c.2586G=	NP_001230111.1:p.Gln862=
XM_005266423.2:c.2823G=	XP_005266480.1:p.Gln941=
XM_005266424.3:c.2823G=	XP_005266481.1:p.Gln941=
XM_005266427.2:c.2685G=	XP_005266484.1:p.Gln895=
XM_005266428.1:c.2667G=	XP_005266485.1:p.Gln889=
XM_005266430.3:c.2919G=	XP_005266487.1:p.Gln973=
XM_005266431.2:c.2883G=	XP_005266488.1:p.Gln961=
XM_005266432.2:c.2433G=	XP_005266489.1:p.Gln811=
XM_006719837.2:c.2823G=	XP_006719900.1:p.Gln941=
XM_006719838.1:c.735G=	XP_006719901.1:p.Gln245=
XM_006719839.1:c.735G=	XP_006719902.1:p.Gln245=
XM_011535117.1:c.2823G=	XP_011533419.1:p.Gln941=
XM_011535118.1:c.2784G=	XP_011533420.1:p.Gln928=
XM_011535119.1:c.2919G=	XP_011533421.1:p.Gln973=
XM_011535120.1:c.2505G=	XP_011533422.1:p.Gln835=
XM_011535121.1:c.2730+3582G=	XP_011533423.1:n.2730+3582G=
XM_011535122.1:c.1587G=	XP_011533424.1:p.Gln529=
XR_941601.1:n.3138G=
XR_941602.1:n.3138G=
XR_941603.1:n.3138G=
XR_941604.1:n.3138G=
NM_001330578.1:c.2685G=	NP_001317507.1:p.Gln895=
NM_001330579.1:c.2667G=	NP_001317508.1:p.Gln889=
XM_005266424.4:c.2823G=	XP_005266481.1:p.Gln941=
XM_005266430.4:c.2919G=	XP_005266487.1:p.Gln973=
XM_005266431.4:c.2883G=	XP_005266488.1:p.Gln961=
XM_006719837.3:c.2823G=	XP_006719900.1:p.Gln941=
XM_011535117.3:c.2823G=	XP_011533419.1:p.Gln941=
XM_017020627.1:c.2823G=	XP_016876116.1:p.Gln941=
NM_000053.4:c.2919G= MANE Select	NP_000044.2:p.Gln973=
NM_001005918.3:c.2298G=	NP_001005918.1:p.Gln766=
NM_001330579.2:c.2667G=	NP_001317508.1:p.Gln889=
NM_001243182.2:c.2586G=	NP_001230111.1:p.Gln862=
NM_001330578.2:c.2685G=	NP_001317507.1:p.Gln895=