Canonical Allele Identifier: CA2091559354

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941099T= , CM000675.2:g.51941099T=	GRCh38
NC_000013.10:g.52515235T= , CM000675.1:g.52515235T=	GRCh37
NC_000013.9:g.51413236T=	NCBI36
NG_008806.1:g.75396A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1188A=	ENSP00000489512.2:n.*1188A=
ENST00000673864.2:c.*2282A=	ENSP00000501045.2:n.*2282A=
ENST00000674147.2:c.2917A=	ENSP00000500964.2:p.Ile973=
ENST00000242839.10:c.3538A= MANE Select	ENSP00000242839.5:p.Ile1180=
ENST00000344297.9:c.2917A=	ENSP00000342559.5:p.Ile973=
ENST00000400366.6:c.3205A=	ENSP00000383217.3:p.Ile1069=
ENST00000448424.7:c.3286A=	ENSP00000416738.3:p.Ile1096=
ENST00000673772.1:c.3304A=	ENSP00000501168.1:p.Ile1102=
ENST00000673867.1:n.3677A=
ENST00000674126.1:n.3901A=
ENST00000674147.1:c.2473A=	ENSP00000500964.1:p.Ile825=
ENST00000242839.8:c.3538A=	ENSP00000242839.4:p.Ile1180=
ENST00000344297.8:c.2917A=	ENSP00000342559.5:p.Ile973=
ENST00000400366.5:c.3205A=	ENSP00000383217.3:p.Ile1069=
ENST00000400370.8:c.2248A=	ENSP00000383221.3:p.Ile750=
ENST00000418097.7:c.3343A=	ENSP00000393343.2:p.Ile1115=
ENST00000448424.6:c.3304A=	ENSP00000416738.2:p.Ile1102=
ENST00000634296.1:c.1316A=
ENST00000634308.1:c.*639A=	ENSP00000489234.1:n.*639A=
ENST00000634620.1:n.4282A=
ENST00000634810.1:n.2883A=
ENST00000634844.1:c.3394A=	ENSP00000489398.1:p.Ile1132=
NM_000053.3:c.3538A=	NP_000044.2:p.Ile1180=
NM_001005918.2:c.2917A=	NP_001005918.1:p.Ile973=
NM_001243182.1:c.3205A=	NP_001230111.1:p.Ile1069=
XM_005266423.2:c.3442A=	XP_005266480.1:p.Ile1148=
XM_005266424.3:c.3442A=	XP_005266481.1:p.Ile1148=
XM_005266427.2:c.3304A=	XP_005266484.1:p.Ile1102=
XM_005266428.1:c.3286A=	XP_005266485.1:p.Ile1096=
XM_005266430.3:c.3538A=	XP_005266487.1:p.Ile1180=
XM_005266431.2:c.3502A=	XP_005266488.1:p.Ile1168=
XM_005266432.2:c.3052A=	XP_005266489.1:p.Ile1018=
XM_006719837.2:c.3442A=	XP_006719900.1:p.Ile1148=
XM_006719838.1:c.1354A=	XP_006719901.1:p.Ile452=
XM_006719839.1:c.1171A=	XP_006719902.1:p.Ile391=
XM_011535117.1:c.3442A=	XP_011533419.1:p.Ile1148=
XM_011535118.1:c.3403A=	XP_011533420.1:p.Ile1135=
XM_011535119.1:c.3355A=	XP_011533421.1:p.Ile1119=
XM_011535120.1:c.3124A=	XP_011533422.1:p.Ile1042=
XM_011535121.1:c.3025A=	XP_011533423.1:p.Ile1009=
XM_011535122.1:c.2206A=	XP_011533424.1:p.Ile736=
XR_941601.1:n.3757A=
XR_941602.1:n.3757A=
XR_941603.1:n.3757A=
XR_941604.1:n.3757A=
NM_001330578.1:c.3304A=	NP_001317507.1:p.Ile1102=
NM_001330579.1:c.3286A=	NP_001317508.1:p.Ile1096=
XM_005266424.4:c.3442A=	XP_005266481.1:p.Ile1148=
XM_005266430.4:c.3538A=	XP_005266487.1:p.Ile1180=
XM_005266431.4:c.3502A=	XP_005266488.1:p.Ile1168=
XM_006719837.3:c.3442A=	XP_006719900.1:p.Ile1148=
XM_011535117.3:c.3442A=	XP_011533419.1:p.Ile1148=
XM_017020627.1:c.3442A=	XP_016876116.1:p.Ile1148=
NM_000053.4:c.3538A= MANE Select	NP_000044.2:p.Ile1180=
NM_001005918.3:c.2917A=	NP_001005918.1:p.Ile973=
NM_001330579.2:c.3286A=	NP_001317508.1:p.Ile1096=
NM_001243182.2:c.3205A=	NP_001230111.1:p.Ile1069=
NM_001330578.2:c.3304A=	NP_001317507.1:p.Ile1102=