Canonical Allele Identifier: CA2091559350

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941096G= , CM000675.2:g.51941096G=	GRCh38
NC_000013.10:g.52515232G= , CM000675.1:g.52515232G=	GRCh37
NC_000013.9:g.51413233G=	NCBI36
NG_008806.1:g.75399C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1191C=	ENSP00000489512.2:n.*1191C=
ENST00000673864.2:c.*2285C=	ENSP00000501045.2:n.*2285C=
ENST00000674147.2:c.2920C=	ENSP00000500964.2:p.Leu974=
ENST00000242839.10:c.3541C= MANE Select	ENSP00000242839.5:p.Leu1181=
ENST00000344297.9:c.2920C=	ENSP00000342559.5:p.Leu974=
ENST00000400366.6:c.3208C=	ENSP00000383217.3:p.Leu1070=
ENST00000448424.7:c.3289C=	ENSP00000416738.3:p.Leu1097=
ENST00000673772.1:c.3307C=	ENSP00000501168.1:p.Leu1103=
ENST00000673867.1:n.3680C=
ENST00000674126.1:n.3904C=
ENST00000674147.1:c.2476C=	ENSP00000500964.1:p.Leu826=
ENST00000242839.8:c.3541C=	ENSP00000242839.4:p.Leu1181=
ENST00000344297.8:c.2920C=	ENSP00000342559.5:p.Leu974=
ENST00000400366.5:c.3208C=	ENSP00000383217.3:p.Leu1070=
ENST00000400370.8:c.2251C=	ENSP00000383221.3:p.Leu751=
ENST00000418097.7:c.3346C=	ENSP00000393343.2:p.Leu1116=
ENST00000448424.6:c.3307C=	ENSP00000416738.2:p.Leu1103=
ENST00000634296.1:c.1319C=
ENST00000634308.1:c.*642C=	ENSP00000489234.1:n.*642C=
ENST00000634620.1:n.4285C=
ENST00000634810.1:n.2886C=
ENST00000634844.1:c.3397C=	ENSP00000489398.1:p.Leu1133=
NM_000053.3:c.3541C=	NP_000044.2:p.Leu1181=
NM_001005918.2:c.2920C=	NP_001005918.1:p.Leu974=
NM_001243182.1:c.3208C=	NP_001230111.1:p.Leu1070=
XM_005266423.2:c.3445C=	XP_005266480.1:p.Leu1149=
XM_005266424.3:c.3445C=	XP_005266481.1:p.Leu1149=
XM_005266427.2:c.3307C=	XP_005266484.1:p.Leu1103=
XM_005266428.1:c.3289C=	XP_005266485.1:p.Leu1097=
XM_005266430.3:c.3541C=	XP_005266487.1:p.Leu1181=
XM_005266431.2:c.3505C=	XP_005266488.1:p.Leu1169=
XM_005266432.2:c.3055C=	XP_005266489.1:p.Leu1019=
XM_006719837.2:c.3445C=	XP_006719900.1:p.Leu1149=
XM_006719838.1:c.1357C=	XP_006719901.1:p.Leu453=
XM_006719839.1:c.1174C=	XP_006719902.1:p.Leu392=
XM_011535117.1:c.3445C=	XP_011533419.1:p.Leu1149=
XM_011535118.1:c.3406C=	XP_011533420.1:p.Leu1136=
XM_011535119.1:c.3358C=	XP_011533421.1:p.Leu1120=
XM_011535120.1:c.3127C=	XP_011533422.1:p.Leu1043=
XM_011535121.1:c.3028C=	XP_011533423.1:p.Leu1010=
XM_011535122.1:c.2209C=	XP_011533424.1:p.Leu737=
XR_941601.1:n.3760C=
XR_941602.1:n.3760C=
XR_941603.1:n.3760C=
XR_941604.1:n.3760C=
NM_001330578.1:c.3307C=	NP_001317507.1:p.Leu1103=
NM_001330579.1:c.3289C=	NP_001317508.1:p.Leu1097=
XM_005266424.4:c.3445C=	XP_005266481.1:p.Leu1149=
XM_005266430.4:c.3541C=	XP_005266487.1:p.Leu1181=
XM_005266431.4:c.3505C=	XP_005266488.1:p.Leu1169=
XM_006719837.3:c.3445C=	XP_006719900.1:p.Leu1149=
XM_011535117.3:c.3445C=	XP_011533419.1:p.Leu1149=
XM_017020627.1:c.3445C=	XP_016876116.1:p.Leu1149=
NM_000053.4:c.3541C= MANE Select	NP_000044.2:p.Leu1181=
NM_001005918.3:c.2920C=	NP_001005918.1:p.Leu974=
NM_001330579.2:c.3289C=	NP_001317508.1:p.Leu1097=
NM_001243182.2:c.3208C=	NP_001230111.1:p.Leu1070=
NM_001330578.2:c.3307C=	NP_001317507.1:p.Leu1103=