Canonical Allele Identifier: CA388026573

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941179C>T , CM000675.2:g.51941179C>T	GRCh38
NC_000013.10:g.52515315C>T , CM000675.1:g.52515315C>T	GRCh37
NC_000013.9:g.51413316C>T	NCBI36
NG_008806.1:g.75316G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3458G>A MANE Select	NP_000044.2:p.Trp1153Ter
ENST00000242839.10:c.3458G>A MANE Select	ENSP00000242839.5:p.Trp1153Ter
NM_000053.3:c.3458G>A	NP_000044.2:p.Trp1153Ter
NM_001005918.2:c.2837G>A	NP_001005918.1:p.Trp946Ter
NM_001005918.3:c.2837G>A	NP_001005918.1:p.Trp946Ter
NM_001243182.1:c.3125G>A	NP_001230111.1:p.Trp1042Ter
NM_001243182.2:c.3125G>A	NP_001230111.1:p.Trp1042Ter
NM_001330578.1:c.3224G>A	NP_001317507.1:p.Trp1075Ter
NM_001330578.2:c.3224G>A	NP_001317507.1:p.Trp1075Ter
NM_001330579.1:c.3206G>A	NP_001317508.1:p.Trp1069Ter
NM_001330579.2:c.3206G>A	NP_001317508.1:p.Trp1069Ter
ENST00000242839.8:c.3458G>A	ENSP00000242839.4:p.Trp1153Ter
ENST00000344297.8:c.2837G>A	ENSP00000342559.5:p.Trp946Ter
ENST00000344297.9:c.2837G>A	ENSP00000342559.5:p.Trp946Ter
ENST00000400366.5:c.3125G>A	ENSP00000383217.3:p.Trp1042Ter
ENST00000400366.6:c.3125G>A	ENSP00000383217.3:p.Trp1042Ter
ENST00000400370.8:c.2168G>A	ENSP00000383221.3:p.Trp723Ter
ENST00000418097.7:c.3263G>A	ENSP00000393343.2:p.Trp1088Ter
ENST00000448424.6:c.3224G>A	ENSP00000416738.2:p.Trp1075Ter
ENST00000448424.7:c.3206G>A	ENSP00000416738.3:p.Trp1069Ter
ENST00000634296.1:c.1236G>A
ENST00000634296.2:c.*1108G>A	ENSP00000489512.2:n.*1108G>A
ENST00000634308.1:c.*559G>A	ENSP00000489234.1:n.*559G>A
ENST00000634620.1:n.4202G>A
ENST00000634810.1:n.2803G>A
ENST00000634844.1:c.3314G>A	ENSP00000489398.1:p.Trp1105Ter
ENST00000673772.1:c.3224G>A	ENSP00000501168.1:p.Trp1075Ter
ENST00000673864.2:c.*2202G>A	ENSP00000501045.2:n.*2202G>A
ENST00000673867.1:n.3597G>A
ENST00000674126.1:n.3821G>A
ENST00000674147.1:c.2393G>A	ENSP00000500964.1:p.Trp798Ter
ENST00000674147.2:c.2837G>A	ENSP00000500964.2:p.Trp946Ter
XM_005266423.2:c.3362G>A	XP_005266480.1:p.Trp1121Ter
XM_005266424.3:c.3362G>A	XP_005266481.1:p.Trp1121Ter
XM_005266424.4:c.3362G>A	XP_005266481.1:p.Trp1121Ter
XM_005266427.2:c.3224G>A	XP_005266484.1:p.Trp1075Ter
XM_005266428.1:c.3206G>A	XP_005266485.1:p.Trp1069Ter
XM_005266430.3:c.3458G>A	XP_005266487.1:p.Trp1153Ter
XM_005266430.4:c.3458G>A	XP_005266487.1:p.Trp1153Ter
XM_005266431.2:c.3422G>A	XP_005266488.1:p.Trp1141Ter
XM_005266431.4:c.3422G>A	XP_005266488.1:p.Trp1141Ter
XM_005266432.2:c.2972G>A	XP_005266489.1:p.Trp991Ter
XM_006719837.2:c.3362G>A	XP_006719900.1:p.Trp1121Ter
XM_006719837.3:c.3362G>A	XP_006719900.1:p.Trp1121Ter
XM_006719838.1:c.1274G>A	XP_006719901.1:p.Trp425Ter
XM_006719839.1:c.1091G>A	XP_006719902.1:p.Trp364Ter
XM_011535117.1:c.3362G>A	XP_011533419.1:p.Trp1121Ter
XM_011535117.3:c.3362G>A	XP_011533419.1:p.Trp1121Ter
XM_011535118.1:c.3323G>A	XP_011533420.1:p.Trp1108Ter
XM_011535119.1:c.3275G>A	XP_011533421.1:p.Trp1092Ter
XM_011535120.1:c.3044G>A	XP_011533422.1:p.Trp1015Ter
XM_011535121.1:c.2945G>A	XP_011533423.1:p.Trp982Ter
XM_011535122.1:c.2126G>A	XP_011533424.1:p.Trp709Ter
XM_017020627.1:c.3362G>A	XP_016876116.1:p.Trp1121Ter
XR_941601.1:n.3677G>A
XR_941602.1:n.3677G>A
XR_941603.1:n.3677G>A
XR_941604.1:n.3677G>A