Canonical Allele Identifier: CA388021220

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511515A>T (hg19) ; chr13:g.51937379A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937379A>T , CM000675.2:g.51937379A>T	GRCh38
NC_000013.10:g.52511515A>T , CM000675.1:g.52511515A>T	GRCh37
NC_000013.9:g.51409516A>T	NCBI36
NG_008806.1:g.79116T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1568T>A	ENSP00000489512.2:n.*1568T>A
ENST00000673864.2:c.*2662T>A	ENSP00000501045.2:n.*2662T>A
ENST00000674147.2:c.3297T>A	ENSP00000500964.2:p.Asp1099Glu
ENST00000242839.10:c.3918T>A MANE Select	ENSP00000242839.5:p.Asp1306Glu
ENST00000344297.9:c.3297T>A	ENSP00000342559.5:p.Asp1099Glu
ENST00000400366.6:c.3585T>A	ENSP00000383217.3:p.Asp1195Glu
ENST00000448424.7:c.3666T>A	ENSP00000416738.3:p.Asp1222Glu
ENST00000673696.1:n.1241T>A
ENST00000673772.1:c.3684T>A	ENSP00000501168.1:p.Asp1228Glu
ENST00000673867.1:n.4057T>A
ENST00000673923.1:n.784T>A
ENST00000674147.1:c.2853T>A	ENSP00000500964.1:p.Asp951Glu
ENST00000242839.8:c.3918T>A	ENSP00000242839.4:p.Asp1306Glu
ENST00000344297.8:c.3297T>A	ENSP00000342559.5:p.Asp1099Glu
ENST00000400366.5:c.3585T>A	ENSP00000383217.3:p.Asp1195Glu
ENST00000400370.8:c.2628T>A	ENSP00000383221.3:p.Asp876Glu
ENST00000418097.7:c.3723T>A	ENSP00000393343.2:p.Asp1241Glu
ENST00000448424.6:c.3684T>A	ENSP00000416738.2:p.Asp1228Glu
ENST00000634296.1:c.1696T>A
ENST00000634308.1:c.*1019T>A	ENSP00000489234.1:n.*1019T>A
ENST00000634620.1:n.4662T>A
ENST00000634810.1:n.3263T>A
ENST00000634844.1:c.3774T>A	ENSP00000489398.1:p.Asp1258Glu
NM_000053.3:c.3918T>A	NP_000044.2:p.Asp1306Glu
NM_001005918.2:c.3297T>A	NP_001005918.1:p.Asp1099Glu
NM_001243182.1:c.3585T>A	NP_001230111.1:p.Asp1195Glu
XM_005266423.2:c.3822T>A	XP_005266480.1:p.Asp1274Glu
XM_005266424.3:c.3822T>A	XP_005266481.1:p.Asp1274Glu
XM_005266427.2:c.3684T>A	XP_005266484.1:p.Asp1228Glu
XM_005266428.1:c.3666T>A	XP_005266485.1:p.Asp1222Glu
XM_005266430.3:c.3918T>A	XP_005266487.1:p.Asp1306Glu
XM_005266431.2:c.3882T>A	XP_005266488.1:p.Asp1294Glu
XM_005266432.2:c.3432T>A	XP_005266489.1:p.Asp1144Glu
XM_006719837.2:c.3822T>A	XP_006719900.1:p.Asp1274Glu
XM_006719838.1:c.1734T>A	XP_006719901.1:p.Asp578Glu
XM_006719839.1:c.1551T>A	XP_006719902.1:p.Asp517Glu
XM_011535117.1:c.3822T>A	XP_011533419.1:p.Asp1274Glu
XM_011535118.1:c.3783T>A	XP_011533420.1:p.Asp1261Glu
XM_011535119.1:c.3735T>A	XP_011533421.1:p.Asp1245Glu
XM_011535120.1:c.3504T>A	XP_011533422.1:p.Asp1168Glu
XM_011535121.1:c.3405T>A	XP_011533423.1:p.Asp1135Glu
XM_011535122.1:c.2586T>A	XP_011533424.1:p.Asp862Glu
XR_941601.1:n.4137T>A
XR_941602.1:n.4137T>A
XR_941603.1:n.4137T>A
XR_941604.1:n.4137T>A
NM_001330578.1:c.3684T>A	NP_001317507.1:p.Asp1228Glu
NM_001330579.1:c.3666T>A	NP_001317508.1:p.Asp1222Glu
XM_005266424.4:c.3822T>A	XP_005266481.1:p.Asp1274Glu
XM_005266430.4:c.3918T>A	XP_005266487.1:p.Asp1306Glu
XM_005266431.4:c.3882T>A	XP_005266488.1:p.Asp1294Glu
XM_006719837.3:c.3822T>A	XP_006719900.1:p.Asp1274Glu
XM_011535117.3:c.3822T>A	XP_011533419.1:p.Asp1274Glu
XM_017020627.1:c.3822T>A	XP_016876116.1:p.Asp1274Glu
NM_000053.4:c.3918T>A MANE Select	NP_000044.2:p.Asp1306Glu
NM_001005918.3:c.3297T>A	NP_001005918.1:p.Asp1099Glu
NM_001330579.2:c.3666T>A	NP_001317508.1:p.Asp1222Glu
NM_001243182.2:c.3585T>A	NP_001230111.1:p.Asp1195Glu
NM_001330578.2:c.3684T>A	NP_001317507.1:p.Asp1228Glu