Canonical Allele Identifier: CA2091566193

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946407C= , CM000675.2:g.51946407C=	GRCh38
NC_000013.10:g.52520543C= , CM000675.1:g.52520543C=	GRCh37
NC_000013.9:g.51418544C=	NCBI36
NG_008806.1:g.70088G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*770G=	ENSP00000489512.2:n.*770G=
ENST00000673864.2:c.*1681G=	ENSP00000501045.2:n.*1681G=
ENST00000674147.2:c.2316G=	ENSP00000500964.2:p.Leu772=
ENST00000242839.10:c.2937G= MANE Select	ENSP00000242839.5:p.Leu979=
ENST00000344297.9:c.2316G=	ENSP00000342559.5:p.Leu772=
ENST00000400366.6:c.2604G=	ENSP00000383217.3:p.Leu868=
ENST00000448424.7:c.2685G=	ENSP00000416738.3:p.Leu895=
ENST00000673772.1:c.2703G=	ENSP00000501168.1:p.Leu901=
ENST00000673867.1:n.1084G=
ENST00000674126.1:n.3300G=
ENST00000674147.1:c.1872G=	ENSP00000500964.1:p.Leu624=
ENST00000242839.8:c.2937G=	ENSP00000242839.4:p.Leu979=
ENST00000344297.8:c.2316G=	ENSP00000342559.5:p.Leu772=
ENST00000400366.5:c.2604G=	ENSP00000383217.3:p.Leu868=
ENST00000400370.8:c.1647G=	ENSP00000383221.3:p.Leu549=
ENST00000418097.7:c.2866-2116G=	ENSP00000393343.2:n.2866-2116G=
ENST00000448424.6:c.2703G=	ENSP00000416738.2:p.Leu901=
ENST00000466629.1:n.157G=
ENST00000634296.1:c.898G=
ENST00000634308.1:c.*38G=	ENSP00000489234.1:n.*38G=
ENST00000634620.1:n.3681G=
ENST00000634810.1:n.2282G=
ENST00000634844.1:c.2793G=	ENSP00000489398.1:p.Leu931=
ENST00000635406.1:n.283G=
NM_000053.3:c.2937G=	NP_000044.2:p.Leu979=
NM_001005918.2:c.2316G=	NP_001005918.1:p.Leu772=
NM_001243182.1:c.2604G=	NP_001230111.1:p.Leu868=
XM_005266423.2:c.2841G=	XP_005266480.1:p.Leu947=
XM_005266424.3:c.2841G=	XP_005266481.1:p.Leu947=
XM_005266427.2:c.2703G=	XP_005266484.1:p.Leu901=
XM_005266428.1:c.2685G=	XP_005266485.1:p.Leu895=
XM_005266430.3:c.2937G=	XP_005266487.1:p.Leu979=
XM_005266431.2:c.2901G=	XP_005266488.1:p.Leu967=
XM_005266432.2:c.2451G=	XP_005266489.1:p.Leu817=
XM_006719837.2:c.2841G=	XP_006719900.1:p.Leu947=
XM_006719838.1:c.753G=	XP_006719901.1:p.Leu251=
XM_006719839.1:c.753G=	XP_006719902.1:p.Leu251=
XM_011535117.1:c.2841G=	XP_011533419.1:p.Leu947=
XM_011535118.1:c.2802G=	XP_011533420.1:p.Leu934=
XM_011535119.1:c.2937G=	XP_011533421.1:p.Leu979=
XM_011535120.1:c.2523G=	XP_011533422.1:p.Leu841=
XM_011535121.1:c.2730+3600G=	XP_011533423.1:n.2730+3600G=
XM_011535122.1:c.1605G=	XP_011533424.1:p.Leu535=
XR_941601.1:n.3156G=
XR_941602.1:n.3156G=
XR_941603.1:n.3156G=
XR_941604.1:n.3156G=
NM_001330578.1:c.2703G=	NP_001317507.1:p.Leu901=
NM_001330579.1:c.2685G=	NP_001317508.1:p.Leu895=
XM_005266424.4:c.2841G=	XP_005266481.1:p.Leu947=
XM_005266430.4:c.2937G=	XP_005266487.1:p.Leu979=
XM_005266431.4:c.2901G=	XP_005266488.1:p.Leu967=
XM_006719837.3:c.2841G=	XP_006719900.1:p.Leu947=
XM_011535117.3:c.2841G=	XP_011533419.1:p.Leu947=
XM_017020627.1:c.2841G=	XP_016876116.1:p.Leu947=
NM_000053.4:c.2937G= MANE Select	NP_000044.2:p.Leu979=
NM_001005918.3:c.2316G=	NP_001005918.1:p.Leu772=
NM_001330579.2:c.2685G=	NP_001317508.1:p.Leu895=
NM_001243182.2:c.2604G=	NP_001230111.1:p.Leu868=
NM_001330578.2:c.2703G=	NP_001317507.1:p.Leu901=