Canonical Allele Identifier: CA402344798

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882378T>A , CM000680.2:g.45882378T>A	GRCh38
NC_000018.9:g.43462343T>A , CM000680.1:g.43462343T>A	GRCh37
NC_000018.8:g.41716341T>A	NCBI36
NG_042838.1:g.89962A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5414A>T MANE Select	NP_066015.2:p.Glu1805Val
ENST00000282041.11:c.5414A>T MANE Select	ENSP00000282041.4:p.Glu1805Val
NM_020964.2:c.5414A>T	NP_066015.2:p.Glu1805Val
ENST00000282041.9:c.5414A>T	ENSP00000282041.4:p.Glu1805Val
ENST00000585906.5:n.2193A>T
ENST00000586655.2:n.3675A>T
ENST00000587884.1:c.*1154A>T	ENSP00000466990.1:n.*1154A>T
ENST00000587884.2:c.5540A>T	ENSP00000466990.2:n.5540A>T
ENST00000587973.2:n.1279A>T
ENST00000590884.5:c.*9A>T	ENSP00000466403.1:n.*9A>T
ENST00000590884.6:c.5358A>T	ENSP00000466403.2:n.5358A>T
ENST00000592272.5:c.2039A>T	ENSP00000467464.1:p.Glu680Val
ENST00000592272.6:c.5414A>T	ENSP00000467464.2:p.Glu1805Val
ENST00000696481.1:n.2046A>T
ENST00000696482.1:c.5154A>T	ENSP00000512656.1:n.5154A>T
ENST00000696483.1:c.5414A>T	ENSP00000512657.1:p.Glu1805Val
ENST00000696484.1:c.5414A>T	ENSP00000512658.1:p.Glu1805Val
ENST00000696485.1:c.*9A>T	ENSP00000512659.1:n.*9A>T
ENST00000696489.1:c.5414A>T	ENSP00000512660.1:p.Glu1805Val
ENST00000696490.1:c.5414A>T	ENSP00000512661.1:p.Glu1805Val
XM_011526120.1:c.5441A>T	XP_011524422.1:p.Glu1814Val
XM_011526121.1:c.5441A>T	XP_011524423.1:p.Glu1814Val
XM_011526122.1:c.5414A>T	XP_011524424.1:p.Glu1805Val
XM_011526123.1:c.5441A>T	XP_011524425.1:p.Glu1814Val
XM_011526124.1:c.5441A>T	XP_011524426.1:p.Glu1814Val
XM_011526125.1:c.5300A>T	XP_011524427.1:p.Glu1767Val
XM_011526126.1:c.4376A>T	XP_011524428.1:p.Glu1459Val
XM_011526127.1:c.5441A>T	XP_011524429.1:p.Glu1814Val
XM_011526128.1:c.*9A>T	XP_011524430.1:n.*9A>T
XM_017025889.1:c.5414A>T	XP_016881378.1:p.Glu1805Val
XM_017025890.2:c.5414A>T	XP_016881379.1:p.Glu1805Val
XM_017025891.1:c.5273A>T	XP_016881380.1:p.Glu1758Val
XM_017025892.1:c.4349A>T	XP_016881381.1:p.Glu1450Val
XM_017025893.1:c.2039A>T	XP_016881382.1:p.Glu680Val
XR_001753256.1:n.5496A>T
XR_001753257.1:n.5440A>T
XR_935244.1:n.5514A>T