Canonical Allele Identifier: CA250071648

Gene: ATP7B

Linked Data

• dbSNP Id: rs998939884
• gnomAD v3: 13-51934927-C-A
• gnomAD v4: 13-51934927-C-A
• COSMIC: COSM4772187
• MyVariant Identifiers: chr13:g.52509063C>A (hg19) ; chr13:g.51934927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934927C>A , CM000675.2:g.51934927C>A	GRCh38
NC_000013.10:g.52509063C>A , CM000675.1:g.52509063C>A	GRCh37
NC_000013.9:g.51407064C>A	NCBI36
NG_008806.1:g.81568G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1877G>T	ENSP00000489512.2:n.*1877G>T
ENST00000673864.2:c.*2971G>T	ENSP00000501045.2:n.*2971G>T
ENST00000674147.2:c.3606G>T	ENSP00000500964.2:p.Arg1202Ser
ENST00000242839.10:c.4227G>T MANE Select	ENSP00000242839.5:p.Arg1409Ser
ENST00000344297.9:c.3606G>T	ENSP00000342559.5:p.Arg1202Ser
ENST00000400366.6:c.3894G>T	ENSP00000383217.3:p.Arg1298Ser
ENST00000448424.7:c.3975G>T	ENSP00000416738.3:p.Arg1325Ser
ENST00000673696.1:n.1550G>T
ENST00000673772.1:c.3993G>T	ENSP00000501168.1:p.Arg1331Ser
ENST00000673867.1:n.4366G>T
ENST00000673923.1:n.1093G>T
ENST00000674147.1:c.3162G>T	ENSP00000500964.1:p.Arg1054Ser
ENST00000242839.8:c.4227G>T	ENSP00000242839.4:p.Arg1409Ser
ENST00000344297.8:c.3606G>T	ENSP00000342559.5:p.Arg1202Ser
ENST00000400366.5:c.3894G>T	ENSP00000383217.3:p.Arg1298Ser
ENST00000400370.8:c.2937G>T	ENSP00000383221.3:p.Arg979Ser
ENST00000418097.7:c.4032G>T	ENSP00000393343.2:p.Arg1344Ser
ENST00000448424.6:c.3993G>T	ENSP00000416738.2:p.Arg1331Ser
ENST00000634296.1:c.2005G>T
ENST00000634308.1:c.*1328G>T	ENSP00000489234.1:n.*1328G>T
ENST00000634620.1:n.4971G>T
ENST00000634810.1:n.3572G>T
ENST00000634844.1:c.4083G>T	ENSP00000489398.1:p.Arg1361Ser
NM_000053.3:c.4227G>T	NP_000044.2:p.Arg1409Ser
NM_001005918.2:c.3606G>T	NP_001005918.1:p.Arg1202Ser
NM_001243182.1:c.3894G>T	NP_001230111.1:p.Arg1298Ser
XM_005266423.2:c.4131G>T	XP_005266480.1:p.Arg1377Ser
XM_005266424.3:c.4131G>T	XP_005266481.1:p.Arg1377Ser
XM_005266427.2:c.3993G>T	XP_005266484.1:p.Arg1331Ser
XM_005266428.1:c.3975G>T	XP_005266485.1:p.Arg1325Ser
XM_005266430.3:c.4227G>T	XP_005266487.1:p.Arg1409Ser
XM_005266431.2:c.4191G>T	XP_005266488.1:p.Arg1397Ser
XM_005266432.2:c.3741G>T	XP_005266489.1:p.Arg1247Ser
XM_006719837.2:c.4131G>T	XP_006719900.1:p.Arg1377Ser
XM_006719838.1:c.2043G>T	XP_006719901.1:p.Arg681Ser
XM_006719839.1:c.1860G>T	XP_006719902.1:p.Arg620Ser
XM_011535117.1:c.4131G>T	XP_011533419.1:p.Arg1377Ser
XM_011535118.1:c.4092G>T	XP_011533420.1:p.Arg1364Ser
XM_011535119.1:c.4044G>T	XP_011533421.1:p.Arg1348Ser
XM_011535120.1:c.3813G>T	XP_011533422.1:p.Arg1271Ser
XM_011535121.1:c.3714G>T	XP_011533423.1:p.Arg1238Ser
XM_011535122.1:c.2895G>T	XP_011533424.1:p.Arg965Ser
XR_941601.1:n.4446G>T
XR_941602.1:n.4446G>T
XR_941603.1:n.4446G>T
XR_941604.1:n.4446G>T
NM_001330578.1:c.3993G>T	NP_001317507.1:p.Arg1331Ser
NM_001330579.1:c.3975G>T	NP_001317508.1:p.Arg1325Ser
XM_005266424.4:c.4131G>T	XP_005266481.1:p.Arg1377Ser
XM_005266430.4:c.4227G>T	XP_005266487.1:p.Arg1409Ser
XM_005266431.4:c.4191G>T	XP_005266488.1:p.Arg1397Ser
XM_006719837.3:c.4131G>T	XP_006719900.1:p.Arg1377Ser
XM_011535117.3:c.4131G>T	XP_011533419.1:p.Arg1377Ser
XM_017020627.1:c.4131G>T	XP_016876116.1:p.Arg1377Ser
NM_000053.4:c.4227G>T MANE Select	NP_000044.2:p.Arg1409Ser
NM_001005918.3:c.3606G>T	NP_001005918.1:p.Arg1202Ser
NM_001330579.2:c.3975G>T	NP_001317508.1:p.Arg1325Ser
NM_001243182.2:c.3894G>T	NP_001230111.1:p.Arg1298Ser
NM_001330578.2:c.3993G>T	NP_001317507.1:p.Arg1331Ser