Canonical Allele Identifier: CA483896221

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 795971
• ClinVar RCV Id: RCV001273299
• dbSNP Id: rs779988850
• gnomAD v4: 13-51958542-G-T
• MyVariant Identifiers: chr13:g.52532678G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958542G>T , CM000675.2:g.51958542G>T	GRCh38
NC_000013.10:g.52532678G>T , CM000675.1:g.52532678G>T	GRCh37
NC_000013.9:g.51430679G>T	NCBI36
NG_008806.1:g.57953C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.1949C>A	ENSP00000489512.2:p.Ser650Tyr
ENST00000673864.2:c.*868C>A	ENSP00000501045.2:n.*868C>A
ENST00000674147.2:c.1870-935C>A	ENSP00000500964.2:n.1870-935C>A
ENST00000242839.10:c.2124C>A MANE Select	ENSP00000242839.5:p.Leu708=
ENST00000344297.9:c.1870-935C>A	ENSP00000342559.5:n.1870-935C>A
ENST00000400366.6:c.1791C>A	ENSP00000383217.3:p.Leu597=
ENST00000448424.7:c.1872C>A	ENSP00000416738.3:p.Leu624=
ENST00000673772.1:c.2122-935C>A	ENSP00000501168.1:n.2122-935C>A
ENST00000674147.1:c.1426-935C>A	ENSP00000500964.1:n.1426-935C>A
ENST00000242839.8:c.2124C>A	ENSP00000242839.4:p.Leu708=
ENST00000344297.8:c.1870-935C>A	ENSP00000342559.5:n.1870-935C>A
ENST00000400366.5:c.1791C>A	ENSP00000383217.3:p.Leu597=
ENST00000400370.8:c.1286-8381C>A	ENSP00000383221.3:n.1286-8381C>A
ENST00000418097.7:c.2124C>A	ENSP00000393343.2:p.Leu708=
ENST00000448424.6:c.2122-935C>A	ENSP00000416738.2:n.2122-935C>A
ENST00000482841.6:n.1667C>A
ENST00000634296.1:c.85C>A
ENST00000634308.1:c.2122-935C>A	ENSP00000489234.1:n.2122-935C>A
ENST00000634620.1:n.2219C>A
ENST00000634810.1:n.1469C>A
ENST00000634844.1:c.2122-142C>A	ENSP00000489398.1:n.2122-142C>A
ENST00000635406.1:n.212-12064C>A
NM_000053.3:c.2124C>A	NP_000044.2:p.Leu708=
NM_001005918.2:c.1870-935C>A	NP_001005918.1:n.1870-935C>A
NM_001243182.1:c.1791C>A	NP_001230111.1:p.Leu597=
XM_005266423.2:c.2028C>A	XP_005266480.1:p.Leu676=
XM_005266424.3:c.2028C>A	XP_005266481.1:p.Leu676=
XM_005266427.2:c.2122-935C>A	XP_005266484.1:n.2122-935C>A
XM_005266428.1:c.1872C>A	XP_005266485.1:p.Leu624=
XM_005266430.3:c.2124C>A	XP_005266487.1:p.Leu708=
XM_005266431.2:c.2088C>A	XP_005266488.1:p.Leu696=
XM_005266432.2:c.1870-935C>A	XP_005266489.1:n.1870-935C>A
XM_006719837.2:c.2028C>A	XP_006719900.1:p.Leu676=
XM_006719838.1:c.-61C>A	XP_006719901.1:n.-61C>A
XM_006719839.1:c.-61C>A	XP_006719902.1:n.-61C>A
XM_011535117.1:c.2028C>A	XP_011533419.1:p.Leu676=
XM_011535118.1:c.2124C>A	XP_011533420.1:p.Leu708=
XM_011535119.1:c.2124C>A	XP_011533421.1:p.Leu708=
XM_011535120.1:c.1710C>A	XP_011533422.1:p.Leu570=
XM_011535121.1:c.2124C>A	XP_011533423.1:p.Leu708=
XM_011535122.1:c.792C>A	XP_011533424.1:p.Leu264=
XR_941601.1:n.2343C>A
XR_941602.1:n.2343C>A
XR_941603.1:n.2343C>A
XR_941604.1:n.2343C>A
NM_001330578.1:c.2122-935C>A	NP_001317507.1:n.2122-935C>A
NM_001330579.1:c.1872C>A	NP_001317508.1:p.Leu624=
XM_005266424.4:c.2028C>A	XP_005266481.1:p.Leu676=
XM_005266430.4:c.2124C>A	XP_005266487.1:p.Leu708=
XM_005266431.4:c.2088C>A	XP_005266488.1:p.Leu696=
XM_006719837.3:c.2028C>A	XP_006719900.1:p.Leu676=
XM_011535117.3:c.2028C>A	XP_011533419.1:p.Leu676=
XM_017020627.1:c.2028C>A	XP_016876116.1:p.Leu676=
NM_000053.4:c.2124C>A MANE Select	NP_000044.2:p.Leu708=
NM_001005918.3:c.1870-935C>A	NP_001005918.1:n.1870-935C>A
NM_001330579.2:c.1872C>A	NP_001317508.1:p.Leu624=
NM_001243182.2:c.1791C>A	NP_001230111.1:p.Leu597=
NM_001330578.2:c.2122-935C>A	NP_001317507.1:n.2122-935C>A