Canonical Allele Identifier: CA402344822

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882390A>C , CM000680.2:g.45882390A>C	GRCh38
NC_000018.9:g.43462355A>C , CM000680.1:g.43462355A>C	GRCh37
NC_000018.8:g.41716353A>C	NCBI36
NG_042838.1:g.89950T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5402T>G MANE Select	NP_066015.2:p.Leu1801Arg
ENST00000282041.11:c.5402T>G MANE Select	ENSP00000282041.4:p.Leu1801Arg
NM_020964.2:c.5402T>G	NP_066015.2:p.Leu1801Arg
ENST00000282041.9:c.5402T>G	ENSP00000282041.4:p.Leu1801Arg
ENST00000585906.5:n.2181T>G
ENST00000586655.2:n.3663T>G
ENST00000587884.1:c.*1142T>G	ENSP00000466990.1:n.*1142T>G
ENST00000587884.2:c.5528T>G	ENSP00000466990.2:n.5528T>G
ENST00000587973.2:n.1267T>G
ENST00000590884.5:c.1971T>G	ENSP00000466403.1:p.Pro657=
ENST00000590884.6:c.5346T>G	ENSP00000466403.2:p.Pro1782=
ENST00000592272.5:c.2027T>G	ENSP00000467464.1:p.Leu676Arg
ENST00000592272.6:c.5402T>G	ENSP00000467464.2:p.Leu1801Arg
ENST00000696481.1:n.2034T>G
ENST00000696482.1:c.5142T>G	ENSP00000512656.1:n.5142T>G
ENST00000696483.1:c.5402T>G	ENSP00000512657.1:p.Leu1801Arg
ENST00000696484.1:c.5402T>G	ENSP00000512658.1:p.Leu1801Arg
ENST00000696485.1:c.5346T>G	ENSP00000512659.1:p.Pro1782=
ENST00000696489.1:c.5402T>G	ENSP00000512660.1:p.Leu1801Arg
ENST00000696490.1:c.5402T>G	ENSP00000512661.1:p.Leu1801Arg
XM_011526120.1:c.5429T>G	XP_011524422.1:p.Leu1810Arg
XM_011526121.1:c.5429T>G	XP_011524423.1:p.Leu1810Arg
XM_011526122.1:c.5402T>G	XP_011524424.1:p.Leu1801Arg
XM_011526123.1:c.5429T>G	XP_011524425.1:p.Leu1810Arg
XM_011526124.1:c.5429T>G	XP_011524426.1:p.Leu1810Arg
XM_011526125.1:c.5288T>G	XP_011524427.1:p.Leu1763Arg
XM_011526126.1:c.4364T>G	XP_011524428.1:p.Leu1455Arg
XM_011526127.1:c.5429T>G	XP_011524429.1:p.Leu1810Arg
XM_011526128.1:c.5373T>G	XP_011524430.1:p.Pro1791=
XM_017025889.1:c.5402T>G	XP_016881378.1:p.Leu1801Arg
XM_017025890.2:c.5402T>G	XP_016881379.1:p.Leu1801Arg
XM_017025891.1:c.5261T>G	XP_016881380.1:p.Leu1754Arg
XM_017025892.1:c.4337T>G	XP_016881381.1:p.Leu1446Arg
XM_017025893.1:c.2027T>G	XP_016881382.1:p.Leu676Arg
XR_001753256.1:n.5484T>G
XR_001753257.1:n.5428T>G
XR_935244.1:n.5502T>G