Canonical Allele Identifier: CA388019509

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52509064C>T (hg19) ; chr13:g.51934928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934928C>T , CM000675.2:g.51934928C>T	GRCh38
NC_000013.10:g.52509064C>T , CM000675.1:g.52509064C>T	GRCh37
NC_000013.9:g.51407065C>T	NCBI36
NG_008806.1:g.81567G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1876G>A	ENSP00000489512.2:n.*1876G>A
ENST00000673864.2:c.*2970G>A	ENSP00000501045.2:n.*2970G>A
ENST00000674147.2:c.3605G>A	ENSP00000500964.2:p.Arg1202Lys
ENST00000242839.10:c.4226G>A MANE Select	ENSP00000242839.5:p.Arg1409Lys
ENST00000344297.9:c.3605G>A	ENSP00000342559.5:p.Arg1202Lys
ENST00000400366.6:c.3893G>A	ENSP00000383217.3:p.Arg1298Lys
ENST00000448424.7:c.3974G>A	ENSP00000416738.3:p.Arg1325Lys
ENST00000673696.1:n.1549G>A
ENST00000673772.1:c.3992G>A	ENSP00000501168.1:p.Arg1331Lys
ENST00000673867.1:n.4365G>A
ENST00000673923.1:n.1092G>A
ENST00000674147.1:c.3161G>A	ENSP00000500964.1:p.Arg1054Lys
ENST00000242839.8:c.4226G>A	ENSP00000242839.4:p.Arg1409Lys
ENST00000344297.8:c.3605G>A	ENSP00000342559.5:p.Arg1202Lys
ENST00000400366.5:c.3893G>A	ENSP00000383217.3:p.Arg1298Lys
ENST00000400370.8:c.2936G>A	ENSP00000383221.3:p.Arg979Lys
ENST00000418097.7:c.4031G>A	ENSP00000393343.2:p.Arg1344Lys
ENST00000448424.6:c.3992G>A	ENSP00000416738.2:p.Arg1331Lys
ENST00000634296.1:c.2004G>A
ENST00000634308.1:c.*1327G>A	ENSP00000489234.1:n.*1327G>A
ENST00000634620.1:n.4970G>A
ENST00000634810.1:n.3571G>A
ENST00000634844.1:c.4082G>A	ENSP00000489398.1:p.Arg1361Lys
NM_000053.3:c.4226G>A	NP_000044.2:p.Arg1409Lys
NM_001005918.2:c.3605G>A	NP_001005918.1:p.Arg1202Lys
NM_001243182.1:c.3893G>A	NP_001230111.1:p.Arg1298Lys
XM_005266423.2:c.4130G>A	XP_005266480.1:p.Arg1377Lys
XM_005266424.3:c.4130G>A	XP_005266481.1:p.Arg1377Lys
XM_005266427.2:c.3992G>A	XP_005266484.1:p.Arg1331Lys
XM_005266428.1:c.3974G>A	XP_005266485.1:p.Arg1325Lys
XM_005266430.3:c.4226G>A	XP_005266487.1:p.Arg1409Lys
XM_005266431.2:c.4190G>A	XP_005266488.1:p.Arg1397Lys
XM_005266432.2:c.3740G>A	XP_005266489.1:p.Arg1247Lys
XM_006719837.2:c.4130G>A	XP_006719900.1:p.Arg1377Lys
XM_006719838.1:c.2042G>A	XP_006719901.1:p.Arg681Lys
XM_006719839.1:c.1859G>A	XP_006719902.1:p.Arg620Lys
XM_011535117.1:c.4130G>A	XP_011533419.1:p.Arg1377Lys
XM_011535118.1:c.4091G>A	XP_011533420.1:p.Arg1364Lys
XM_011535119.1:c.4043G>A	XP_011533421.1:p.Arg1348Lys
XM_011535120.1:c.3812G>A	XP_011533422.1:p.Arg1271Lys
XM_011535121.1:c.3713G>A	XP_011533423.1:p.Arg1238Lys
XM_011535122.1:c.2894G>A	XP_011533424.1:p.Arg965Lys
XR_941601.1:n.4445G>A
XR_941602.1:n.4445G>A
XR_941603.1:n.4445G>A
XR_941604.1:n.4445G>A
NM_001330578.1:c.3992G>A	NP_001317507.1:p.Arg1331Lys
NM_001330579.1:c.3974G>A	NP_001317508.1:p.Arg1325Lys
XM_005266424.4:c.4130G>A	XP_005266481.1:p.Arg1377Lys
XM_005266430.4:c.4226G>A	XP_005266487.1:p.Arg1409Lys
XM_005266431.4:c.4190G>A	XP_005266488.1:p.Arg1397Lys
XM_006719837.3:c.4130G>A	XP_006719900.1:p.Arg1377Lys
XM_011535117.3:c.4130G>A	XP_011533419.1:p.Arg1377Lys
XM_017020627.1:c.4130G>A	XP_016876116.1:p.Arg1377Lys
NM_000053.4:c.4226G>A MANE Select	NP_000044.2:p.Arg1409Lys
NM_001005918.3:c.3605G>A	NP_001005918.1:p.Arg1202Lys
NM_001330579.2:c.3974G>A	NP_001317508.1:p.Arg1325Lys
NM_001243182.2:c.3893G>A	NP_001230111.1:p.Arg1298Lys
NM_001330578.2:c.3992G>A	NP_001317507.1:p.Arg1331Lys