Canonical Allele Identifier: CA402344581

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882286G>T , CM000680.2:g.45882286G>T	GRCh38
NC_000018.9:g.43462251G>T , CM000680.1:g.43462251G>T	GRCh37
NC_000018.8:g.41716249G>T	NCBI36
NG_042838.1:g.90054C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5506C>A MANE Select	NP_066015.2:p.Leu1836Met
ENST00000282041.11:c.5506C>A MANE Select	ENSP00000282041.4:p.Leu1836Met
NM_020964.2:c.5506C>A	NP_066015.2:p.Leu1836Met
ENST00000282041.9:c.5506C>A	ENSP00000282041.4:p.Leu1836Met
ENST00000585906.5:n.2285C>A
ENST00000586655.2:n.3767C>A
ENST00000587884.1:c.*1246C>A	ENSP00000466990.1:n.*1246C>A
ENST00000587884.2:c.5632C>A	ENSP00000466990.2:n.5632C>A
ENST00000587973.2:n.1371C>A
ENST00000590884.5:c.*101C>A	ENSP00000466403.1:n.*101C>A
ENST00000590884.6:c.5450C>A	ENSP00000466403.2:n.5450C>A
ENST00000592272.5:c.2131C>A	ENSP00000467464.1:p.Leu711Met
ENST00000592272.6:c.5506C>A	ENSP00000467464.2:p.Leu1836Met
ENST00000696481.1:n.2138C>A
ENST00000696482.1:c.5246C>A	ENSP00000512656.1:n.5246C>A
ENST00000696483.1:c.5506C>A	ENSP00000512657.1:p.Leu1836Met
ENST00000696484.1:c.5506C>A	ENSP00000512658.1:p.Leu1836Met
ENST00000696485.1:c.*101C>A	ENSP00000512659.1:n.*101C>A
ENST00000696489.1:c.5506C>A	ENSP00000512660.1:p.Leu1836Met
ENST00000696490.1:c.5506C>A	ENSP00000512661.1:p.Leu1836Met
XM_011526120.1:c.5533C>A	XP_011524422.1:p.Leu1845Met
XM_011526121.1:c.5533C>A	XP_011524423.1:p.Leu1845Met
XM_011526122.1:c.5506C>A	XP_011524424.1:p.Leu1836Met
XM_011526123.1:c.5533C>A	XP_011524425.1:p.Leu1845Met
XM_011526124.1:c.5533C>A	XP_011524426.1:p.Leu1845Met
XM_011526125.1:c.5392C>A	XP_011524427.1:p.Leu1798Met
XM_011526126.1:c.4468C>A	XP_011524428.1:p.Leu1490Met
XM_011526127.1:c.5533C>A	XP_011524429.1:p.Leu1845Met
XM_011526128.1:c.*101C>A	XP_011524430.1:n.*101C>A
XM_017025889.1:c.5506C>A	XP_016881378.1:p.Leu1836Met
XM_017025890.2:c.5506C>A	XP_016881379.1:p.Leu1836Met
XM_017025891.1:c.5365C>A	XP_016881380.1:p.Leu1789Met
XM_017025892.1:c.4441C>A	XP_016881381.1:p.Leu1481Met
XM_017025893.1:c.2131C>A	XP_016881382.1:p.Leu711Met
XR_001753256.1:n.5588C>A
XR_001753257.1:n.5532C>A
XR_935244.1:n.5606C>A