Canonical Allele Identifier: CA402345016

Gene: EPG5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5311C>T MANE Select	NP_066015.2:p.Leu1771Phe
ENST00000282041.11:c.5311C>T MANE Select	ENSP00000282041.4:p.Leu1771Phe
NM_020964.2:c.5311C>T	NP_066015.2:p.Leu1771Phe
ENST00000282041.9:c.5311C>T	ENSP00000282041.4:p.Leu1771Phe
ENST00000585906.5:n.2090C>T
ENST00000586655.2:n.3622-50C>T
ENST00000587884.1:c.*1051C>T	ENSP00000466990.1:n.*1051C>T
ENST00000587884.2:c.5437C>T	ENSP00000466990.2:n.5437C>T
ENST00000587973.2:n.1176C>T
ENST00000590884.5:c.1930-50C>T	ENSP00000466403.1:n.1930-50C>T
ENST00000590884.6:c.5305-50C>T	ENSP00000466403.2:n.5305-50C>T
ENST00000592272.5:c.1936C>T	ENSP00000467464.1:p.Leu646Phe
ENST00000592272.6:c.5311C>T	ENSP00000467464.2:p.Leu1771Phe
ENST00000696481.1:n.1943C>T
ENST00000696482.1:c.5051C>T	ENSP00000512656.1:n.5051C>T
ENST00000696483.1:c.5311C>T	ENSP00000512657.1:p.Leu1771Phe
ENST00000696484.1:c.5311C>T	ENSP00000512658.1:p.Leu1771Phe
ENST00000696485.1:c.5305-50C>T	ENSP00000512659.1:n.5305-50C>T
ENST00000696489.1:c.5311C>T	ENSP00000512660.1:p.Leu1771Phe
ENST00000696490.1:c.5311C>T	ENSP00000512661.1:p.Leu1771Phe
XM_011526120.1:c.5338C>T	XP_011524422.1:p.Leu1780Phe
XM_011526121.1:c.5338C>T	XP_011524423.1:p.Leu1780Phe
XM_011526122.1:c.5311C>T	XP_011524424.1:p.Leu1771Phe
XM_011526123.1:c.5338C>T	XP_011524425.1:p.Leu1780Phe
XM_011526124.1:c.5338C>T	XP_011524426.1:p.Leu1780Phe
XM_011526125.1:c.5197C>T	XP_011524427.1:p.Leu1733Phe
XM_011526126.1:c.4273C>T	XP_011524428.1:p.Leu1425Phe
XM_011526127.1:c.5338C>T	XP_011524429.1:p.Leu1780Phe
XM_011526128.1:c.5332-50C>T	XP_011524430.1:n.5332-50C>T
XM_017025889.1:c.5311C>T	XP_016881378.1:p.Leu1771Phe
XM_017025890.2:c.5311C>T	XP_016881379.1:p.Leu1771Phe
XM_017025891.1:c.5170C>T	XP_016881380.1:p.Leu1724Phe
XM_017025892.1:c.4246C>T	XP_016881381.1:p.Leu1416Phe
XM_017025893.1:c.1936C>T	XP_016881382.1:p.Leu646Phe
XR_001753256.1:n.5393C>T
XR_001753257.1:n.5387-50C>T
XR_935244.1:n.5411C>T