Canonical Allele Identifier: CA2091559568

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941194A= , CM000675.2:g.51941194A=	GRCh38
NC_000013.10:g.52515330A= , CM000675.1:g.52515330A=	GRCh37
NC_000013.9:g.51413331A=	NCBI36
NG_008806.1:g.75301T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1093T=	ENSP00000489512.2:n.*1093T=
ENST00000673864.2:c.*2187T=	ENSP00000501045.2:n.*2187T=
ENST00000674147.2:c.2822T=	ENSP00000500964.2:p.Ile941=
ENST00000242839.10:c.3443T= MANE Select	ENSP00000242839.5:p.Ile1148=
ENST00000344297.9:c.2822T=	ENSP00000342559.5:p.Ile941=
ENST00000400366.6:c.3110T=	ENSP00000383217.3:p.Ile1037=
ENST00000448424.7:c.3191T=	ENSP00000416738.3:p.Ile1064=
ENST00000673772.1:c.3209T=	ENSP00000501168.1:p.Ile1070=
ENST00000673867.1:n.3582T=
ENST00000674126.1:n.3806T=
ENST00000674147.1:c.2378T=	ENSP00000500964.1:p.Ile793=
ENST00000242839.8:c.3443T=	ENSP00000242839.4:p.Ile1148=
ENST00000344297.8:c.2822T=	ENSP00000342559.5:p.Ile941=
ENST00000400366.5:c.3110T=	ENSP00000383217.3:p.Ile1037=
ENST00000400370.8:c.2153T=	ENSP00000383221.3:p.Ile718=
ENST00000418097.7:c.3248T=	ENSP00000393343.2:p.Ile1083=
ENST00000448424.6:c.3209T=	ENSP00000416738.2:p.Ile1070=
ENST00000634296.1:c.1221T=
ENST00000634308.1:c.*544T=	ENSP00000489234.1:n.*544T=
ENST00000634620.1:n.4187T=
ENST00000634810.1:n.2788T=
ENST00000634844.1:c.3299T=	ENSP00000489398.1:p.Ile1100=
NM_000053.3:c.3443T=	NP_000044.2:p.Ile1148=
NM_001005918.2:c.2822T=	NP_001005918.1:p.Ile941=
NM_001243182.1:c.3110T=	NP_001230111.1:p.Ile1037=
XM_005266423.2:c.3347T=	XP_005266480.1:p.Ile1116=
XM_005266424.3:c.3347T=	XP_005266481.1:p.Ile1116=
XM_005266427.2:c.3209T=	XP_005266484.1:p.Ile1070=
XM_005266428.1:c.3191T=	XP_005266485.1:p.Ile1064=
XM_005266430.3:c.3443T=	XP_005266487.1:p.Ile1148=
XM_005266431.2:c.3407T=	XP_005266488.1:p.Ile1136=
XM_005266432.2:c.2957T=	XP_005266489.1:p.Ile986=
XM_006719837.2:c.3347T=	XP_006719900.1:p.Ile1116=
XM_006719838.1:c.1259T=	XP_006719901.1:p.Ile420=
XM_006719839.1:c.1076T=	XP_006719902.1:p.Ile359=
XM_011535117.1:c.3347T=	XP_011533419.1:p.Ile1116=
XM_011535118.1:c.3308T=	XP_011533420.1:p.Ile1103=
XM_011535119.1:c.3260T=	XP_011533421.1:p.Ile1087=
XM_011535120.1:c.3029T=	XP_011533422.1:p.Ile1010=
XM_011535121.1:c.2930T=	XP_011533423.1:p.Ile977=
XM_011535122.1:c.2111T=	XP_011533424.1:p.Ile704=
XR_941601.1:n.3662T=
XR_941602.1:n.3662T=
XR_941603.1:n.3662T=
XR_941604.1:n.3662T=
NM_001330578.1:c.3209T=	NP_001317507.1:p.Ile1070=
NM_001330579.1:c.3191T=	NP_001317508.1:p.Ile1064=
XM_005266424.4:c.3347T=	XP_005266481.1:p.Ile1116=
XM_005266430.4:c.3443T=	XP_005266487.1:p.Ile1148=
XM_005266431.4:c.3407T=	XP_005266488.1:p.Ile1136=
XM_006719837.3:c.3347T=	XP_006719900.1:p.Ile1116=
XM_011535117.3:c.3347T=	XP_011533419.1:p.Ile1116=
XM_017020627.1:c.3347T=	XP_016876116.1:p.Ile1116=
NM_000053.4:c.3443T= MANE Select	NP_000044.2:p.Ile1148=
NM_001005918.3:c.2822T=	NP_001005918.1:p.Ile941=
NM_001330579.2:c.3191T=	NP_001317508.1:p.Ile1064=
NM_001243182.2:c.3110T=	NP_001230111.1:p.Ile1037=
NM_001330578.2:c.3209T=	NP_001317507.1:p.Ile1070=