Canonical Allele Identifier: CA388020215

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509805G>T (hg19) ; chr13:g.51935669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935669G>T , CM000675.2:g.51935669G>T	GRCh38
NC_000013.10:g.52509805G>T , CM000675.1:g.52509805G>T	GRCh37
NC_000013.9:g.51407806G>T	NCBI36
NG_008806.1:g.80826C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1698C>A	ENSP00000489512.2:n.*1698C>A
ENST00000673864.2:c.*2792C>A	ENSP00000501045.2:n.*2792C>A
ENST00000674147.2:c.3427C>A	ENSP00000500964.2:p.Leu1143Met
ENST00000242839.10:c.4048C>A MANE Select	ENSP00000242839.5:p.Leu1350Met
ENST00000344297.9:c.3427C>A	ENSP00000342559.5:p.Leu1143Met
ENST00000400366.6:c.3715C>A	ENSP00000383217.3:p.Leu1239Met
ENST00000448424.7:c.3796C>A	ENSP00000416738.3:p.Leu1266Met
ENST00000673696.1:n.1371C>A
ENST00000673772.1:c.3814C>A	ENSP00000501168.1:p.Leu1272Met
ENST00000673867.1:n.4187C>A
ENST00000673923.1:n.914C>A
ENST00000674147.1:c.2983C>A	ENSP00000500964.1:p.Leu995Met
ENST00000242839.8:c.4048C>A	ENSP00000242839.4:p.Leu1350Met
ENST00000344297.8:c.3427C>A	ENSP00000342559.5:p.Leu1143Met
ENST00000400366.5:c.3715C>A	ENSP00000383217.3:p.Leu1239Met
ENST00000400370.8:c.2758C>A	ENSP00000383221.3:p.Leu920Met
ENST00000418097.7:c.3853C>A	ENSP00000393343.2:p.Leu1285Met
ENST00000448424.6:c.3814C>A	ENSP00000416738.2:p.Leu1272Met
ENST00000634296.1:c.1826C>A
ENST00000634308.1:c.*1149C>A	ENSP00000489234.1:n.*1149C>A
ENST00000634620.1:n.4792C>A
ENST00000634810.1:n.3393C>A
ENST00000634844.1:c.3904C>A	ENSP00000489398.1:p.Leu1302Met
NM_000053.3:c.4048C>A	NP_000044.2:p.Leu1350Met
NM_001005918.2:c.3427C>A	NP_001005918.1:p.Leu1143Met
NM_001243182.1:c.3715C>A	NP_001230111.1:p.Leu1239Met
XM_005266423.2:c.3952C>A	XP_005266480.1:p.Leu1318Met
XM_005266424.3:c.3952C>A	XP_005266481.1:p.Leu1318Met
XM_005266427.2:c.3814C>A	XP_005266484.1:p.Leu1272Met
XM_005266428.1:c.3796C>A	XP_005266485.1:p.Leu1266Met
XM_005266430.3:c.4048C>A	XP_005266487.1:p.Leu1350Met
XM_005266431.2:c.4012C>A	XP_005266488.1:p.Leu1338Met
XM_005266432.2:c.3562C>A	XP_005266489.1:p.Leu1188Met
XM_006719837.2:c.3952C>A	XP_006719900.1:p.Leu1318Met
XM_006719838.1:c.1864C>A	XP_006719901.1:p.Leu622Met
XM_006719839.1:c.1681C>A	XP_006719902.1:p.Leu561Met
XM_011535117.1:c.3952C>A	XP_011533419.1:p.Leu1318Met
XM_011535118.1:c.3913C>A	XP_011533420.1:p.Leu1305Met
XM_011535119.1:c.3865C>A	XP_011533421.1:p.Leu1289Met
XM_011535120.1:c.3634C>A	XP_011533422.1:p.Leu1212Met
XM_011535121.1:c.3535C>A	XP_011533423.1:p.Leu1179Met
XM_011535122.1:c.2716C>A	XP_011533424.1:p.Leu906Met
XR_941601.1:n.4267C>A
XR_941602.1:n.4267C>A
XR_941603.1:n.4267C>A
XR_941604.1:n.4267C>A
NM_001330578.1:c.3814C>A	NP_001317507.1:p.Leu1272Met
NM_001330579.1:c.3796C>A	NP_001317508.1:p.Leu1266Met
XM_005266424.4:c.3952C>A	XP_005266481.1:p.Leu1318Met
XM_005266430.4:c.4048C>A	XP_005266487.1:p.Leu1350Met
XM_005266431.4:c.4012C>A	XP_005266488.1:p.Leu1338Met
XM_006719837.3:c.3952C>A	XP_006719900.1:p.Leu1318Met
XM_011535117.3:c.3952C>A	XP_011533419.1:p.Leu1318Met
XM_017020627.1:c.3952C>A	XP_016876116.1:p.Leu1318Met
NM_000053.4:c.4048C>A MANE Select	NP_000044.2:p.Leu1350Met
NM_001005918.3:c.3427C>A	NP_001005918.1:p.Leu1143Met
NM_001330579.2:c.3796C>A	NP_001317508.1:p.Leu1266Met
NM_001243182.2:c.3715C>A	NP_001230111.1:p.Leu1239Met
NM_001330578.2:c.3814C>A	NP_001317507.1:p.Leu1272Met