Canonical Allele Identifier: CA274112

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 188908
• ClinVar RCV Id: RCV000169268 ; RCV003480071
• dbSNP Id: rs776848753
• MyVariant Identifiers: chr13:g.52509765G>A (hg19) ; chr13:g.51935629G>A (hg38)
• PubMed: PMID:10544227 ; PMID:19937698 ; PMID:21610751 ; PMID:22692182 ; PMID:24094725

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51935629G>A , CM000675.2:g.51935629G>A	GRCh38
NC_000013.10:g.52509765G>A , CM000675.1:g.52509765G>A	GRCh37
NC_000013.9:g.51407766G>A	NCBI36
NG_008806.1:g.80866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1738C>T	ENSP00000489512.2:n.*1738C>T
ENST00000673864.2:c.*2832C>T	ENSP00000501045.2:n.*2832C>T
ENST00000674147.2:c.3467C>T	ENSP00000500964.2:p.Ser1156Phe
ENST00000242839.10:c.4088C>T MANE Select	ENSP00000242839.5:p.Ser1363Phe
ENST00000344297.9:c.3467C>T	ENSP00000342559.5:p.Ser1156Phe
ENST00000400366.6:c.3755C>T	ENSP00000383217.3:p.Ser1252Phe
ENST00000448424.7:c.3836C>T	ENSP00000416738.3:p.Ser1279Phe
ENST00000673696.1:n.1411C>T
ENST00000673772.1:c.3854C>T	ENSP00000501168.1:p.Ser1285Phe
ENST00000673867.1:n.4227C>T
ENST00000673923.1:n.954C>T
ENST00000674147.1:c.3023C>T	ENSP00000500964.1:p.Ser1008Phe
ENST00000242839.8:c.4088C>T	ENSP00000242839.4:p.Ser1363Phe
ENST00000344297.8:c.3467C>T	ENSP00000342559.5:p.Ser1156Phe
ENST00000400366.5:c.3755C>T	ENSP00000383217.3:p.Ser1252Phe
ENST00000400370.8:c.2798C>T	ENSP00000383221.3:p.Ser933Phe
ENST00000418097.7:c.3893C>T	ENSP00000393343.2:p.Ser1298Phe
ENST00000448424.6:c.3854C>T	ENSP00000416738.2:p.Ser1285Phe
ENST00000634296.1:c.1866C>T
ENST00000634308.1:c.*1189C>T	ENSP00000489234.1:n.*1189C>T
ENST00000634620.1:n.4832C>T
ENST00000634810.1:n.3433C>T
ENST00000634844.1:c.3944C>T	ENSP00000489398.1:p.Ser1315Phe
NM_000053.3:c.4088C>T	NP_000044.2:p.Ser1363Phe
NM_001005918.2:c.3467C>T	NP_001005918.1:p.Ser1156Phe
NM_001243182.1:c.3755C>T	NP_001230111.1:p.Ser1252Phe
XM_005266423.2:c.3992C>T	XP_005266480.1:p.Ser1331Phe
XM_005266424.3:c.3992C>T	XP_005266481.1:p.Ser1331Phe
XM_005266427.2:c.3854C>T	XP_005266484.1:p.Ser1285Phe
XM_005266428.1:c.3836C>T	XP_005266485.1:p.Ser1279Phe
XM_005266430.3:c.4088C>T	XP_005266487.1:p.Ser1363Phe
XM_005266431.2:c.4052C>T	XP_005266488.1:p.Ser1351Phe
XM_005266432.2:c.3602C>T	XP_005266489.1:p.Ser1201Phe
XM_006719837.2:c.3992C>T	XP_006719900.1:p.Ser1331Phe
XM_006719838.1:c.1904C>T	XP_006719901.1:p.Ser635Phe
XM_006719839.1:c.1721C>T	XP_006719902.1:p.Ser574Phe
XM_011535117.1:c.3992C>T	XP_011533419.1:p.Ser1331Phe
XM_011535118.1:c.3953C>T	XP_011533420.1:p.Ser1318Phe
XM_011535119.1:c.3905C>T	XP_011533421.1:p.Ser1302Phe
XM_011535120.1:c.3674C>T	XP_011533422.1:p.Ser1225Phe
XM_011535121.1:c.3575C>T	XP_011533423.1:p.Ser1192Phe
XM_011535122.1:c.2756C>T	XP_011533424.1:p.Ser919Phe
XR_941601.1:n.4307C>T
XR_941602.1:n.4307C>T
XR_941603.1:n.4307C>T
XR_941604.1:n.4307C>T
NM_001330578.1:c.3854C>T	NP_001317507.1:p.Ser1285Phe
NM_001330579.1:c.3836C>T	NP_001317508.1:p.Ser1279Phe
XM_005266424.4:c.3992C>T	XP_005266481.1:p.Ser1331Phe
XM_005266430.4:c.4088C>T	XP_005266487.1:p.Ser1363Phe
XM_005266431.4:c.4052C>T	XP_005266488.1:p.Ser1351Phe
XM_006719837.3:c.3992C>T	XP_006719900.1:p.Ser1331Phe
XM_011535117.3:c.3992C>T	XP_011533419.1:p.Ser1331Phe
XM_017020627.1:c.3992C>T	XP_016876116.1:p.Ser1331Phe
NM_000053.4:c.4088C>T MANE Select	NP_000044.2:p.Ser1363Phe
NM_001005918.3:c.3467C>T	NP_001005918.1:p.Ser1156Phe
NM_001330579.2:c.3836C>T	NP_001317508.1:p.Ser1279Phe
NM_001243182.2:c.3755C>T	NP_001230111.1:p.Ser1252Phe
NM_001330578.2:c.3854C>T	NP_001317507.1:p.Ser1285Phe