Canonical Allele Identifier: CA388024324

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513283C>A (hg19) ; chr13:g.51939147C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939147C>A , CM000675.2:g.51939147C>A	GRCh38
NC_000013.10:g.52513283C>A , CM000675.1:g.52513283C>A	GRCh37
NC_000013.9:g.51411284C>A	NCBI36
NG_008806.1:g.77348G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1253G>T	ENSP00000489512.2:n.*1253G>T
ENST00000673864.2:c.*2347G>T	ENSP00000501045.2:n.*2347G>T
ENST00000674147.2:c.2982G>T	ENSP00000500964.2:p.Glu994Asp
ENST00000242839.10:c.3603G>T MANE Select	ENSP00000242839.5:p.Glu1201Asp
ENST00000344297.9:c.2982G>T	ENSP00000342559.5:p.Glu994Asp
ENST00000400366.6:c.3270G>T	ENSP00000383217.3:p.Glu1090Asp
ENST00000448424.7:c.3351G>T	ENSP00000416738.3:p.Glu1117Asp
ENST00000673696.1:n.844G>T
ENST00000673772.1:c.3369G>T	ENSP00000501168.1:p.Glu1123Asp
ENST00000673867.1:n.3742G>T
ENST00000673923.1:n.469G>T
ENST00000674147.1:c.2538G>T	ENSP00000500964.1:p.Glu846Asp
ENST00000242839.8:c.3603G>T	ENSP00000242839.4:p.Glu1201Asp
ENST00000344297.8:c.2982G>T	ENSP00000342559.5:p.Glu994Asp
ENST00000400366.5:c.3270G>T	ENSP00000383217.3:p.Glu1090Asp
ENST00000400370.8:c.2313G>T	ENSP00000383221.3:p.Glu771Asp
ENST00000418097.7:c.3408G>T	ENSP00000393343.2:p.Glu1136Asp
ENST00000448424.6:c.3369G>T	ENSP00000416738.2:p.Glu1123Asp
ENST00000634296.1:c.1381G>T
ENST00000634308.1:c.*704G>T	ENSP00000489234.1:n.*704G>T
ENST00000634620.1:n.4347G>T
ENST00000634810.1:n.2948G>T
ENST00000634844.1:c.3459G>T	ENSP00000489398.1:p.Glu1153Asp
NM_000053.3:c.3603G>T	NP_000044.2:p.Glu1201Asp
NM_001005918.2:c.2982G>T	NP_001005918.1:p.Glu994Asp
NM_001243182.1:c.3270G>T	NP_001230111.1:p.Glu1090Asp
XM_005266423.2:c.3507G>T	XP_005266480.1:p.Glu1169Asp
XM_005266424.3:c.3507G>T	XP_005266481.1:p.Glu1169Asp
XM_005266427.2:c.3369G>T	XP_005266484.1:p.Glu1123Asp
XM_005266428.1:c.3351G>T	XP_005266485.1:p.Glu1117Asp
XM_005266430.3:c.3603G>T	XP_005266487.1:p.Glu1201Asp
XM_005266431.2:c.3567G>T	XP_005266488.1:p.Glu1189Asp
XM_005266432.2:c.3117G>T	XP_005266489.1:p.Glu1039Asp
XM_006719837.2:c.3507G>T	XP_006719900.1:p.Glu1169Asp
XM_006719838.1:c.1419G>T	XP_006719901.1:p.Glu473Asp
XM_006719839.1:c.1236G>T	XP_006719902.1:p.Glu412Asp
XM_011535117.1:c.3507G>T	XP_011533419.1:p.Glu1169Asp
XM_011535118.1:c.3468G>T	XP_011533420.1:p.Glu1156Asp
XM_011535119.1:c.3420G>T	XP_011533421.1:p.Glu1140Asp
XM_011535120.1:c.3189G>T	XP_011533422.1:p.Glu1063Asp
XM_011535121.1:c.3090G>T	XP_011533423.1:p.Glu1030Asp
XM_011535122.1:c.2271G>T	XP_011533424.1:p.Glu757Asp
XR_941601.1:n.3822G>T
XR_941602.1:n.3822G>T
XR_941603.1:n.3822G>T
XR_941604.1:n.3822G>T
NM_001330578.1:c.3369G>T	NP_001317507.1:p.Glu1123Asp
NM_001330579.1:c.3351G>T	NP_001317508.1:p.Glu1117Asp
XM_005266424.4:c.3507G>T	XP_005266481.1:p.Glu1169Asp
XM_005266430.4:c.3603G>T	XP_005266487.1:p.Glu1201Asp
XM_005266431.4:c.3567G>T	XP_005266488.1:p.Glu1189Asp
XM_006719837.3:c.3507G>T	XP_006719900.1:p.Glu1169Asp
XM_011535117.3:c.3507G>T	XP_011533419.1:p.Glu1169Asp
XM_017020627.1:c.3507G>T	XP_016876116.1:p.Glu1169Asp
NM_000053.4:c.3603G>T MANE Select	NP_000044.2:p.Glu1201Asp
NM_001005918.3:c.2982G>T	NP_001005918.1:p.Glu994Asp
NM_001330579.2:c.3351G>T	NP_001317508.1:p.Glu1117Asp
NM_001243182.2:c.3270G>T	NP_001230111.1:p.Glu1090Asp
NM_001330578.2:c.3369G>T	NP_001317507.1:p.Glu1123Asp