Canonical Allele Identifier: CA388018999

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52508952G>T (hg19) ; chr13:g.51934816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934816G>T , CM000675.2:g.51934816G>T	GRCh38
NC_000013.10:g.52508952G>T , CM000675.1:g.52508952G>T	GRCh37
NC_000013.9:g.51406953G>T	NCBI36
NG_008806.1:g.81679C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1988C>A	ENSP00000489512.2:n.*1988C>A
ENST00000673864.2:c.*3082C>A	ENSP00000501045.2:n.*3082C>A
ENST00000674147.2:c.3717C>A	ENSP00000500964.2:p.Asp1239Glu
ENST00000242839.10:c.4338C>A MANE Select	ENSP00000242839.5:p.Asp1446Glu
ENST00000344297.9:c.3717C>A	ENSP00000342559.5:p.Asp1239Glu
ENST00000400366.6:c.4005C>A	ENSP00000383217.3:p.Asp1335Glu
ENST00000448424.7:c.4086C>A	ENSP00000416738.3:p.Asp1362Glu
ENST00000673696.1:n.1661C>A
ENST00000673772.1:c.4104C>A	ENSP00000501168.1:p.Asp1368Glu
ENST00000673867.1:n.4477C>A
ENST00000673923.1:n.1204C>A
ENST00000674147.1:c.3273C>A	ENSP00000500964.1:p.Asp1091Glu
ENST00000242839.8:c.4338C>A	ENSP00000242839.4:p.Asp1446Glu
ENST00000344297.8:c.3717C>A	ENSP00000342559.5:p.Asp1239Glu
ENST00000400366.5:c.4005C>A	ENSP00000383217.3:p.Asp1335Glu
ENST00000400370.8:c.3048C>A	ENSP00000383221.3:p.Asp1016Glu
ENST00000418097.7:c.4143C>A	ENSP00000393343.2:p.Asp1381Glu
ENST00000448424.6:c.4104C>A	ENSP00000416738.2:p.Asp1368Glu
ENST00000634296.1:c.2116C>A
ENST00000634308.1:c.*1439C>A	ENSP00000489234.1:n.*1439C>A
ENST00000634620.1:n.5082C>A
ENST00000634810.1:n.3683C>A
ENST00000634844.1:c.4194C>A	ENSP00000489398.1:p.Asp1398Glu
NM_000053.3:c.4338C>A	NP_000044.2:p.Asp1446Glu
NM_001005918.2:c.3717C>A	NP_001005918.1:p.Asp1239Glu
NM_001243182.1:c.4005C>A	NP_001230111.1:p.Asp1335Glu
XM_005266423.2:c.4242C>A	XP_005266480.1:p.Asp1414Glu
XM_005266424.3:c.4242C>A	XP_005266481.1:p.Asp1414Glu
XM_005266427.2:c.4104C>A	XP_005266484.1:p.Asp1368Glu
XM_005266428.1:c.4086C>A	XP_005266485.1:p.Asp1362Glu
XM_005266430.3:c.4338C>A	XP_005266487.1:p.Asp1446Glu
XM_005266431.2:c.4302C>A	XP_005266488.1:p.Asp1434Glu
XM_005266432.2:c.3852C>A	XP_005266489.1:p.Asp1284Glu
XM_006719837.2:c.4242C>A	XP_006719900.1:p.Asp1414Glu
XM_006719838.1:c.2154C>A	XP_006719901.1:p.Asp718Glu
XM_006719839.1:c.1971C>A	XP_006719902.1:p.Asp657Glu
XM_011535117.1:c.4242C>A	XP_011533419.1:p.Asp1414Glu
XM_011535118.1:c.4203C>A	XP_011533420.1:p.Asp1401Glu
XM_011535119.1:c.4155C>A	XP_011533421.1:p.Asp1385Glu
XM_011535120.1:c.3924C>A	XP_011533422.1:p.Asp1308Glu
XM_011535121.1:c.3825C>A	XP_011533423.1:p.Asp1275Glu
XM_011535122.1:c.3006C>A	XP_011533424.1:p.Asp1002Glu
XR_941601.1:n.4557C>A
XR_941602.1:n.4557C>A
XR_941603.1:n.4557C>A
XR_941604.1:n.4557C>A
NM_001330578.1:c.4104C>A	NP_001317507.1:p.Asp1368Glu
NM_001330579.1:c.4086C>A	NP_001317508.1:p.Asp1362Glu
XM_005266424.4:c.4242C>A	XP_005266481.1:p.Asp1414Glu
XM_005266430.4:c.4338C>A	XP_005266487.1:p.Asp1446Glu
XM_005266431.4:c.4302C>A	XP_005266488.1:p.Asp1434Glu
XM_006719837.3:c.4242C>A	XP_006719900.1:p.Asp1414Glu
XM_011535117.3:c.4242C>A	XP_011533419.1:p.Asp1414Glu
XM_017020627.1:c.4242C>A	XP_016876116.1:p.Asp1414Glu
NM_000053.4:c.4338C>A MANE Select	NP_000044.2:p.Asp1446Glu
NM_001005918.3:c.3717C>A	NP_001005918.1:p.Asp1239Glu
NM_001330579.2:c.4086C>A	NP_001317508.1:p.Asp1362Glu
NM_001243182.2:c.4005C>A	NP_001230111.1:p.Asp1335Glu
NM_001330578.2:c.4104C>A	NP_001317507.1:p.Asp1368Glu