Canonical Allele Identifier: CA402345018

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882481G>T , CM000680.2:g.45882481G>T	GRCh38
NC_000018.9:g.43462446G>T , CM000680.1:g.43462446G>T	GRCh37
NC_000018.8:g.41716444G>T	NCBI36
NG_042838.1:g.89859C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5311C>A MANE Select	NP_066015.2:p.Leu1771Ile
ENST00000282041.11:c.5311C>A MANE Select	ENSP00000282041.4:p.Leu1771Ile
NM_020964.2:c.5311C>A	NP_066015.2:p.Leu1771Ile
ENST00000282041.9:c.5311C>A	ENSP00000282041.4:p.Leu1771Ile
ENST00000585906.5:n.2090C>A
ENST00000586655.2:n.3622-50C>A
ENST00000587884.1:c.*1051C>A	ENSP00000466990.1:n.*1051C>A
ENST00000587884.2:c.5437C>A	ENSP00000466990.2:n.5437C>A
ENST00000587973.2:n.1176C>A
ENST00000590884.5:c.1930-50C>A	ENSP00000466403.1:n.1930-50C>A
ENST00000590884.6:c.5305-50C>A	ENSP00000466403.2:n.5305-50C>A
ENST00000592272.5:c.1936C>A	ENSP00000467464.1:p.Leu646Ile
ENST00000592272.6:c.5311C>A	ENSP00000467464.2:p.Leu1771Ile
ENST00000696481.1:n.1943C>A
ENST00000696482.1:c.5051C>A	ENSP00000512656.1:n.5051C>A
ENST00000696483.1:c.5311C>A	ENSP00000512657.1:p.Leu1771Ile
ENST00000696484.1:c.5311C>A	ENSP00000512658.1:p.Leu1771Ile
ENST00000696485.1:c.5305-50C>A	ENSP00000512659.1:n.5305-50C>A
ENST00000696489.1:c.5311C>A	ENSP00000512660.1:p.Leu1771Ile
ENST00000696490.1:c.5311C>A	ENSP00000512661.1:p.Leu1771Ile
XM_011526120.1:c.5338C>A	XP_011524422.1:p.Leu1780Ile
XM_011526121.1:c.5338C>A	XP_011524423.1:p.Leu1780Ile
XM_011526122.1:c.5311C>A	XP_011524424.1:p.Leu1771Ile
XM_011526123.1:c.5338C>A	XP_011524425.1:p.Leu1780Ile
XM_011526124.1:c.5338C>A	XP_011524426.1:p.Leu1780Ile
XM_011526125.1:c.5197C>A	XP_011524427.1:p.Leu1733Ile
XM_011526126.1:c.4273C>A	XP_011524428.1:p.Leu1425Ile
XM_011526127.1:c.5338C>A	XP_011524429.1:p.Leu1780Ile
XM_011526128.1:c.5332-50C>A	XP_011524430.1:n.5332-50C>A
XM_017025889.1:c.5311C>A	XP_016881378.1:p.Leu1771Ile
XM_017025890.2:c.5311C>A	XP_016881379.1:p.Leu1771Ile
XM_017025891.1:c.5170C>A	XP_016881380.1:p.Leu1724Ile
XM_017025892.1:c.4246C>A	XP_016881381.1:p.Leu1416Ile
XM_017025893.1:c.1936C>A	XP_016881382.1:p.Leu646Ile
XR_001753256.1:n.5393C>A
XR_001753257.1:n.5387-50C>A
XR_935244.1:n.5411C>A