Canonical Allele Identifier: CA402345013

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882480A>C , CM000680.2:g.45882480A>C	GRCh38
NC_000018.9:g.43462445A>C , CM000680.1:g.43462445A>C	GRCh37
NC_000018.8:g.41716443A>C	NCBI36
NG_042838.1:g.89860T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5312T>G MANE Select	NP_066015.2:p.Leu1771Arg
ENST00000282041.11:c.5312T>G MANE Select	ENSP00000282041.4:p.Leu1771Arg
NM_020964.2:c.5312T>G	NP_066015.2:p.Leu1771Arg
ENST00000282041.9:c.5312T>G	ENSP00000282041.4:p.Leu1771Arg
ENST00000585906.5:n.2091T>G
ENST00000586655.2:n.3622-49T>G
ENST00000587884.1:c.*1052T>G	ENSP00000466990.1:n.*1052T>G
ENST00000587884.2:c.5438T>G	ENSP00000466990.2:n.5438T>G
ENST00000587973.2:n.1177T>G
ENST00000590884.5:c.1930-49T>G	ENSP00000466403.1:n.1930-49T>G
ENST00000590884.6:c.5305-49T>G	ENSP00000466403.2:n.5305-49T>G
ENST00000592272.5:c.1937T>G	ENSP00000467464.1:p.Leu646Arg
ENST00000592272.6:c.5312T>G	ENSP00000467464.2:p.Leu1771Arg
ENST00000696481.1:n.1944T>G
ENST00000696482.1:c.5052T>G	ENSP00000512656.1:n.5052T>G
ENST00000696483.1:c.5312T>G	ENSP00000512657.1:p.Leu1771Arg
ENST00000696484.1:c.5312T>G	ENSP00000512658.1:p.Leu1771Arg
ENST00000696485.1:c.5305-49T>G	ENSP00000512659.1:n.5305-49T>G
ENST00000696489.1:c.5312T>G	ENSP00000512660.1:p.Leu1771Arg
ENST00000696490.1:c.5312T>G	ENSP00000512661.1:p.Leu1771Arg
XM_011526120.1:c.5339T>G	XP_011524422.1:p.Leu1780Arg
XM_011526121.1:c.5339T>G	XP_011524423.1:p.Leu1780Arg
XM_011526122.1:c.5312T>G	XP_011524424.1:p.Leu1771Arg
XM_011526123.1:c.5339T>G	XP_011524425.1:p.Leu1780Arg
XM_011526124.1:c.5339T>G	XP_011524426.1:p.Leu1780Arg
XM_011526125.1:c.5198T>G	XP_011524427.1:p.Leu1733Arg
XM_011526126.1:c.4274T>G	XP_011524428.1:p.Leu1425Arg
XM_011526127.1:c.5339T>G	XP_011524429.1:p.Leu1780Arg
XM_011526128.1:c.5332-49T>G	XP_011524430.1:n.5332-49T>G
XM_017025889.1:c.5312T>G	XP_016881378.1:p.Leu1771Arg
XM_017025890.2:c.5312T>G	XP_016881379.1:p.Leu1771Arg
XM_017025891.1:c.5171T>G	XP_016881380.1:p.Leu1724Arg
XM_017025892.1:c.4247T>G	XP_016881381.1:p.Leu1416Arg
XM_017025893.1:c.1937T>G	XP_016881382.1:p.Leu646Arg
XR_001753256.1:n.5394T>G
XR_001753257.1:n.5387-49T>G
XR_935244.1:n.5412T>G