Canonical Allele Identifier: CA388033268

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949676G>A , CM000675.2:g.51949676G>A	GRCh38
NC_000013.10:g.52523812G>A , CM000675.1:g.52523812G>A	GRCh37
NC_000013.9:g.51421813G>A	NCBI36
NG_008806.1:g.66819C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.2851C>T MANE Select	NP_000044.2:p.Gln951Ter
ENST00000242839.10:c.2851C>T MANE Select	ENSP00000242839.5:p.Gln951Ter
NM_000053.3:c.2851C>T	NP_000044.2:p.Gln951Ter
NM_001005918.2:c.2244+331C>T	NP_001005918.1:n.2244+331C>T
NM_001005918.3:c.2244+331C>T	NP_001005918.1:n.2244+331C>T
NM_001243182.1:c.2518C>T	NP_001230111.1:p.Gln840Ter
NM_001243182.2:c.2518C>T	NP_001230111.1:p.Gln840Ter
NM_001330578.1:c.2617C>T	NP_001317507.1:p.Gln873Ter
NM_001330578.2:c.2617C>T	NP_001317507.1:p.Gln873Ter
NM_001330579.1:c.2599C>T	NP_001317508.1:p.Gln867Ter
NM_001330579.2:c.2599C>T	NP_001317508.1:p.Gln867Ter
ENST00000242839.8:c.2851C>T	ENSP00000242839.4:p.Gln951Ter
ENST00000344297.8:c.2244+331C>T	ENSP00000342559.5:n.2244+331C>T
ENST00000344297.9:c.2244+331C>T	ENSP00000342559.5:n.2244+331C>T
ENST00000400366.5:c.2518C>T	ENSP00000383217.3:p.Gln840Ter
ENST00000400366.6:c.2518C>T	ENSP00000383217.3:p.Gln840Ter
ENST00000400370.8:c.1561C>T	ENSP00000383221.3:p.Gln521Ter
ENST00000418097.7:c.2851C>T	ENSP00000393343.2:p.Gln951Ter
ENST00000448424.6:c.2617C>T	ENSP00000416738.2:p.Gln873Ter
ENST00000448424.7:c.2599C>T	ENSP00000416738.3:p.Gln867Ter
ENST00000634296.1:c.812C>T
ENST00000634296.2:c.*684C>T	ENSP00000489512.2:n.*684C>T
ENST00000634308.1:c.2617C>T	ENSP00000489234.1:p.Gln873Ter
ENST00000634620.1:n.3609+40C>T
ENST00000634810.1:n.2196C>T
ENST00000634844.1:c.2707C>T	ENSP00000489398.1:p.Gln903Ter
ENST00000635406.1:n.212-3198C>T
ENST00000673772.1:c.2617C>T	ENSP00000501168.1:p.Gln873Ter
ENST00000673864.2:c.*1595C>T	ENSP00000501045.2:n.*1595C>T
ENST00000674126.1:n.31C>T
ENST00000674147.1:c.1800+331C>T	ENSP00000500964.1:n.1800+331C>T
ENST00000674147.2:c.2244+331C>T	ENSP00000500964.2:n.2244+331C>T
XM_005266423.2:c.2755C>T	XP_005266480.1:p.Gln919Ter
XM_005266424.3:c.2755C>T	XP_005266481.1:p.Gln919Ter
XM_005266424.4:c.2755C>T	XP_005266481.1:p.Gln919Ter
XM_005266427.2:c.2617C>T	XP_005266484.1:p.Gln873Ter
XM_005266428.1:c.2599C>T	XP_005266485.1:p.Gln867Ter
XM_005266430.3:c.2851C>T	XP_005266487.1:p.Gln951Ter
XM_005266430.4:c.2851C>T	XP_005266487.1:p.Gln951Ter
XM_005266431.2:c.2815C>T	XP_005266488.1:p.Gln939Ter
XM_005266431.4:c.2815C>T	XP_005266488.1:p.Gln939Ter
XM_005266432.2:c.2365C>T	XP_005266489.1:p.Gln789Ter
XM_006719837.2:c.2755C>T	XP_006719900.1:p.Gln919Ter
XM_006719837.3:c.2755C>T	XP_006719900.1:p.Gln919Ter
XM_006719838.1:c.667C>T	XP_006719901.1:p.Gln223Ter
XM_006719839.1:c.667C>T	XP_006719902.1:p.Gln223Ter
XM_011535117.1:c.2755C>T	XP_011533419.1:p.Gln919Ter
XM_011535117.3:c.2755C>T	XP_011533419.1:p.Gln919Ter
XM_011535118.1:c.2730+331C>T	XP_011533420.1:n.2730+331C>T
XM_011535119.1:c.2851C>T	XP_011533421.1:p.Gln951Ter
XM_011535120.1:c.2437C>T	XP_011533422.1:p.Gln813Ter
XM_011535121.1:c.2730+331C>T	XP_011533423.1:n.2730+331C>T
XM_011535122.1:c.1519C>T	XP_011533424.1:p.Gln507Ter
XM_017020627.1:c.2755C>T	XP_016876116.1:p.Gln919Ter
XR_941601.1:n.3070C>T
XR_941602.1:n.3070C>T
XR_941603.1:n.3070C>T
XR_941604.1:n.3070C>T