Canonical Allele Identifier: CA2091559624

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941219C= , CM000675.2:g.51941219C=	GRCh38
NC_000013.10:g.52515355C= , CM000675.1:g.52515355C=	GRCh37
NC_000013.9:g.51413356C=	NCBI36
NG_008806.1:g.75276G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1068G=	ENSP00000489512.2:n.*1068G=
ENST00000673864.2:c.*2162G=	ENSP00000501045.2:n.*2162G=
ENST00000674147.2:c.2797G=	ENSP00000500964.2:p.Val933=
ENST00000242839.10:c.3418G= MANE Select	ENSP00000242839.5:p.Val1140=
ENST00000344297.9:c.2797G=	ENSP00000342559.5:p.Val933=
ENST00000400366.6:c.3085G=	ENSP00000383217.3:p.Val1029=
ENST00000448424.7:c.3166G=	ENSP00000416738.3:p.Val1056=
ENST00000673772.1:c.3184G=	ENSP00000501168.1:p.Val1062=
ENST00000673867.1:n.3557G=
ENST00000674126.1:n.3781G=
ENST00000674147.1:c.2353G=	ENSP00000500964.1:p.Val785=
ENST00000242839.8:c.3418G=	ENSP00000242839.4:p.Val1140=
ENST00000344297.8:c.2797G=	ENSP00000342559.5:p.Val933=
ENST00000400366.5:c.3085G=	ENSP00000383217.3:p.Val1029=
ENST00000400370.8:c.2128G=	ENSP00000383221.3:p.Val710=
ENST00000418097.7:c.3223G=	ENSP00000393343.2:p.Val1075=
ENST00000448424.6:c.3184G=	ENSP00000416738.2:p.Val1062=
ENST00000634296.1:c.1196G=
ENST00000634308.1:c.*519G=	ENSP00000489234.1:n.*519G=
ENST00000634620.1:n.4162G=
ENST00000634810.1:n.2763G=
ENST00000634844.1:c.3274G=	ENSP00000489398.1:p.Val1092=
NM_000053.3:c.3418G=	NP_000044.2:p.Val1140=
NM_001005918.2:c.2797G=	NP_001005918.1:p.Val933=
NM_001243182.1:c.3085G=	NP_001230111.1:p.Val1029=
XM_005266423.2:c.3322G=	XP_005266480.1:p.Val1108=
XM_005266424.3:c.3322G=	XP_005266481.1:p.Val1108=
XM_005266427.2:c.3184G=	XP_005266484.1:p.Val1062=
XM_005266428.1:c.3166G=	XP_005266485.1:p.Val1056=
XM_005266430.3:c.3418G=	XP_005266487.1:p.Val1140=
XM_005266431.2:c.3382G=	XP_005266488.1:p.Val1128=
XM_005266432.2:c.2932G=	XP_005266489.1:p.Val978=
XM_006719837.2:c.3322G=	XP_006719900.1:p.Val1108=
XM_006719838.1:c.1234G=	XP_006719901.1:p.Val412=
XM_006719839.1:c.1051G=	XP_006719902.1:p.Val351=
XM_011535117.1:c.3322G=	XP_011533419.1:p.Val1108=
XM_011535118.1:c.3283G=	XP_011533420.1:p.Val1095=
XM_011535119.1:c.3235G=	XP_011533421.1:p.Val1079=
XM_011535120.1:c.3004G=	XP_011533422.1:p.Val1002=
XM_011535121.1:c.2905G=	XP_011533423.1:p.Val969=
XM_011535122.1:c.2086G=	XP_011533424.1:p.Val696=
XR_941601.1:n.3637G=
XR_941602.1:n.3637G=
XR_941603.1:n.3637G=
XR_941604.1:n.3637G=
NM_001330578.1:c.3184G=	NP_001317507.1:p.Val1062=
NM_001330579.1:c.3166G=	NP_001317508.1:p.Val1056=
XM_005266424.4:c.3322G=	XP_005266481.1:p.Val1108=
XM_005266430.4:c.3418G=	XP_005266487.1:p.Val1140=
XM_005266431.4:c.3382G=	XP_005266488.1:p.Val1128=
XM_006719837.3:c.3322G=	XP_006719900.1:p.Val1108=
XM_011535117.3:c.3322G=	XP_011533419.1:p.Val1108=
XM_017020627.1:c.3322G=	XP_016876116.1:p.Val1108=
NM_000053.4:c.3418G= MANE Select	NP_000044.2:p.Val1140=
NM_001005918.3:c.2797G=	NP_001005918.1:p.Val933=
NM_001330579.2:c.3166G=	NP_001317508.1:p.Val1056=
NM_001243182.2:c.3085G=	NP_001230111.1:p.Val1029=
NM_001330578.2:c.3184G=	NP_001317507.1:p.Val1062=