Canonical Allele Identifier: CA402342838

Gene: EPG5

Linked Data

• ClinVar Variation Id: 534603
• ClinVar RCV Id: RCV000642216
• dbSNP Id: rs1555666104
• MyVariant Identifiers: chr18:g.43459110T>A (hg19) ; chr18:g.45879145T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45879145T>A , CM000680.2:g.45879145T>A	GRCh38
NC_000018.9:g.43459110T>A , CM000680.1:g.43459110T>A	GRCh37
NC_000018.8:g.41713108T>A	NCBI36
NG_042838.1:g.93195A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.3998A>T
ENST00000587884.2:c.5863A>T	ENSP00000466990.2:n.5863A>T
ENST00000587973.2:n.1602A>T
ENST00000590884.6:c.5681A>T	ENSP00000466403.2:n.5681A>T
ENST00000592272.6:c.5737A>T	ENSP00000467464.2:p.Ser1913Cys
ENST00000696481.1:n.2369A>T
ENST00000696482.1:c.5477A>T	ENSP00000512656.1:n.5477A>T
ENST00000696483.1:c.5737A>T	ENSP00000512657.1:p.Ser1913Cys
ENST00000696484.1:c.5737A>T	ENSP00000512658.1:p.Ser1913Cys
ENST00000696485.1:c.*332A>T	ENSP00000512659.1:n.*332A>T
ENST00000696489.1:c.5737A>T	ENSP00000512660.1:p.Ser1913Cys
ENST00000696490.1:c.5737A>T	ENSP00000512661.1:p.Ser1913Cys
ENST00000282041.11:c.5737A>T MANE Select	ENSP00000282041.4:p.Ser1913Cys
ENST00000282041.9:c.5737A>T	ENSP00000282041.4:p.Ser1913Cys
ENST00000585906.5:n.2516A>T
ENST00000587884.1:c.*1477A>T	ENSP00000466990.1:n.*1477A>T
ENST00000590884.5:c.*332A>T	ENSP00000466403.1:n.*332A>T
ENST00000592272.5:c.2362A>T	ENSP00000467464.1:p.Ser788Cys
NM_020964.2:c.5737A>T	NP_066015.2:p.Ser1913Cys
XM_011526120.1:c.5764A>T	XP_011524422.1:p.Ser1922Cys
XM_011526121.1:c.5764A>T	XP_011524423.1:p.Ser1922Cys
XM_011526122.1:c.5737A>T	XP_011524424.1:p.Ser1913Cys
XM_011526123.1:c.5764A>T	XP_011524425.1:p.Ser1922Cys
XM_011526124.1:c.5764A>T	XP_011524426.1:p.Ser1922Cys
XM_011526125.1:c.5623A>T	XP_011524427.1:p.Ser1875Cys
XM_011526126.1:c.4699A>T	XP_011524428.1:p.Ser1567Cys
XM_011526127.1:c.5764A>T	XP_011524429.1:p.Ser1922Cys
XR_935244.1:n.5837A>T
NM_020964.3:c.5737A>T MANE Select	NP_066015.2:p.Ser1913Cys
XM_017025889.1:c.5737A>T	XP_016881378.1:p.Ser1913Cys
XM_017025890.2:c.5737A>T	XP_016881379.1:p.Ser1913Cys
XM_017025891.1:c.5596A>T	XP_016881380.1:p.Ser1866Cys
XM_017025892.1:c.4672A>T	XP_016881381.1:p.Ser1558Cys
XM_017025893.1:c.2362A>T	XP_016881382.1:p.Ser788Cys
XR_001753256.1:n.5819A>T
XR_001753257.1:n.5763A>T