Canonical Allele Identifier: CA503799302

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45876300C>T , CM000680.2:g.45876300C>T	GRCh38
NC_000018.9:g.43456265C>T , CM000680.1:g.43456265C>T	GRCh37
NC_000018.8:g.41710263C>T	NCBI36
NG_042838.1:g.96040G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.4246G>A
ENST00000587884.2:c.6111G>A	ENSP00000466990.2:n.6111G>A
ENST00000587973.2:n.1850G>A
ENST00000590884.6:c.5886+2076G>A	ENSP00000466403.2:n.5886+2076G>A
ENST00000592272.6:c.5942+2076G>A	ENSP00000467464.2:n.5942+2076G>A
ENST00000696481.1:n.2617G>A
ENST00000696482.1:c.5725G>A	ENSP00000512656.1:n.5725G>A
ENST00000696483.1:c.5985G>A	ENSP00000512657.1:p.Val1995=
ENST00000696484.1:c.5985G>A	ENSP00000512658.1:p.Val1995=
ENST00000696485.1:c.*577G>A	ENSP00000512659.1:n.*577G>A
ENST00000696489.1:c.5982G>A	ENSP00000512660.1:p.Val1994=
ENST00000696490.1:c.5985G>A	ENSP00000512661.1:p.Val1995=
ENST00000282041.11:c.5985G>A MANE Select	ENSP00000282041.4:p.Val1995=
ENST00000282041.9:c.5985G>A	ENSP00000282041.4:p.Val1995=
ENST00000585906.5:n.2764G>A
ENST00000587884.1:c.*1725G>A	ENSP00000466990.1:n.*1725G>A
ENST00000590884.5:c.*537+2076G>A	ENSP00000466403.1:n.*537+2076G>A
ENST00000592272.5:c.2567+2076G>A	ENSP00000467464.1:n.2567+2076G>A
NM_020964.2:c.5985G>A	NP_066015.2:p.Val1995=
XM_011526120.1:c.6012G>A	XP_011524422.1:p.Val2004=
XM_011526121.1:c.6009G>A	XP_011524423.1:p.Val2003=
XM_011526122.1:c.5985G>A	XP_011524424.1:p.Val1995=
XM_011526123.1:c.6012G>A	XP_011524425.1:p.Val2004=
XM_011526124.1:c.6012G>A	XP_011524426.1:p.Val2004=
XM_011526125.1:c.5871G>A	XP_011524427.1:p.Val1957=
XM_011526126.1:c.4947G>A	XP_011524428.1:p.Val1649=
XM_011526127.1:c.5969+2076G>A	XP_011524429.1:n.5969+2076G>A
XR_935244.1:n.6042+2076G>A
NM_020964.3:c.5985G>A MANE Select	NP_066015.2:p.Val1995=
XM_017025889.1:c.5982G>A	XP_016881378.1:p.Val1994=
XM_017025890.2:c.5985G>A	XP_016881379.1:p.Val1995=
XM_017025891.1:c.5844G>A	XP_016881380.1:p.Val1948=
XM_017025892.1:c.4920G>A	XP_016881381.1:p.Val1640=
XM_017025893.1:c.2610G>A	XP_016881382.1:p.Val870=
XR_001753256.1:n.6024+2076G>A
XR_001753257.1:n.6008G>A