Canonical Allele Identifier: CA388020448

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 590805
• ClinVar RCV Id: RCV000721965
• dbSNP Id: rs1566532164
• MyVariant Identifiers: chr13:g.52532451G>A (hg19) ; chr13:g.51958315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958315G>A , CM000675.2:g.51958315G>A	GRCh38
NC_000013.10:g.52532451G>A , CM000675.1:g.52532451G>A	GRCh37
NC_000013.9:g.51430452G>A	NCBI36
NG_008806.1:g.58180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*184C>T	ENSP00000489512.2:n.*184C>T
ENST00000673864.2:c.*1095C>T	ENSP00000501045.2:n.*1095C>T
ENST00000674147.2:c.1870-708C>T	ENSP00000500964.2:n.1870-708C>T
ENST00000242839.10:c.2351C>T MANE Select	ENSP00000242839.5:p.Ala784Val
ENST00000344297.9:c.1870-708C>T	ENSP00000342559.5:n.1870-708C>T
ENST00000400366.6:c.2018C>T	ENSP00000383217.3:p.Ala673Val
ENST00000448424.7:c.2099C>T	ENSP00000416738.3:p.Ala700Val
ENST00000673772.1:c.2122-708C>T	ENSP00000501168.1:n.2122-708C>T
ENST00000674147.1:c.1426-708C>T	ENSP00000500964.1:n.1426-708C>T
ENST00000242839.8:c.2351C>T	ENSP00000242839.4:p.Ala784Val
ENST00000344297.8:c.1870-708C>T	ENSP00000342559.5:n.1870-708C>T
ENST00000400366.5:c.2018C>T	ENSP00000383217.3:p.Ala673Val
ENST00000400370.8:c.1286-8154C>T	ENSP00000383221.3:n.1286-8154C>T
ENST00000418097.7:c.2351C>T	ENSP00000393343.2:p.Ala784Val
ENST00000448424.6:c.2122-708C>T	ENSP00000416738.2:n.2122-708C>T
ENST00000634296.1:c.312C>T
ENST00000634308.1:c.2122-708C>T	ENSP00000489234.1:n.2122-708C>T
ENST00000634620.1:n.2446C>T
ENST00000634810.1:n.1696C>T
ENST00000634844.1:c.2207C>T	ENSP00000489398.1:p.Ala736Val
ENST00000635406.1:n.212-11837C>T
NM_000053.3:c.2351C>T	NP_000044.2:p.Ala784Val
NM_001005918.2:c.1870-708C>T	NP_001005918.1:n.1870-708C>T
NM_001243182.1:c.2018C>T	NP_001230111.1:p.Ala673Val
XM_005266423.2:c.2255C>T	XP_005266480.1:p.Ala752Val
XM_005266424.3:c.2255C>T	XP_005266481.1:p.Ala752Val
XM_005266427.2:c.2122-708C>T	XP_005266484.1:n.2122-708C>T
XM_005266428.1:c.2099C>T	XP_005266485.1:p.Ala700Val
XM_005266430.3:c.2351C>T	XP_005266487.1:p.Ala784Val
XM_005266431.2:c.2315C>T	XP_005266488.1:p.Ala772Val
XM_005266432.2:c.1870-708C>T	XP_005266489.1:n.1870-708C>T
XM_006719837.2:c.2255C>T	XP_006719900.1:p.Ala752Val
XM_006719838.1:c.167C>T	XP_006719901.1:p.Ala56Val
XM_006719839.1:c.167C>T	XP_006719902.1:p.Ala56Val
XM_011535117.1:c.2255C>T	XP_011533419.1:p.Ala752Val
XM_011535118.1:c.2351C>T	XP_011533420.1:p.Ala784Val
XM_011535119.1:c.2351C>T	XP_011533421.1:p.Ala784Val
XM_011535120.1:c.1937C>T	XP_011533422.1:p.Ala646Val
XM_011535121.1:c.2351C>T	XP_011533423.1:p.Ala784Val
XM_011535122.1:c.1019C>T	XP_011533424.1:p.Ala340Val
XR_941601.1:n.2570C>T
XR_941602.1:n.2570C>T
XR_941603.1:n.2570C>T
XR_941604.1:n.2570C>T
NM_001330578.1:c.2122-708C>T	NP_001317507.1:n.2122-708C>T
NM_001330579.1:c.2099C>T	NP_001317508.1:p.Ala700Val
XM_005266424.4:c.2255C>T	XP_005266481.1:p.Ala752Val
XM_005266430.4:c.2351C>T	XP_005266487.1:p.Ala784Val
XM_005266431.4:c.2315C>T	XP_005266488.1:p.Ala772Val
XM_006719837.3:c.2255C>T	XP_006719900.1:p.Ala752Val
XM_011535117.3:c.2255C>T	XP_011533419.1:p.Ala752Val
XM_017020627.1:c.2255C>T	XP_016876116.1:p.Ala752Val
NM_000053.4:c.2351C>T MANE Select	NP_000044.2:p.Ala784Val
NM_001005918.3:c.1870-708C>T	NP_001005918.1:n.1870-708C>T
NM_001330579.2:c.2099C>T	NP_001317508.1:p.Ala700Val
NM_001243182.2:c.2018C>T	NP_001230111.1:p.Ala673Val
NM_001330578.2:c.2122-708C>T	NP_001317507.1:n.2122-708C>T