Canonical Allele Identifier: CA299712203
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45880204C>G , CM000680.2:g.45880204C>G GRCh38
NC_000018.9:g.43460169C>G , CM000680.1:g.43460169C>G GRCh37
NC_000018.8:g.41714167C>G NCBI36
NG_042838.1:g.92136G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000586655.2:n.3799G>C
ENST00000587884.2:c.5664G>C ENSP00000466990.2:n.5664G>C
ENST00000587973.2:n.1403G>C
ENST00000590884.6:c.5482G>C ENSP00000466403.2:n.5482G>C
ENST00000592272.6:c.5538G>C ENSP00000467464.2:p.Leu1846=
ENST00000696481.1:n.2170G>C
ENST00000696482.1:c.5278G>C ENSP00000512656.1:n.5278G>C
ENST00000696483.1:c.5538G>C ENSP00000512657.1:p.Leu1846=
ENST00000696484.1:c.5538G>C ENSP00000512658.1:p.Leu1846=
ENST00000696485.1:c.*133G>C ENSP00000512659.1:n.*133G>C
ENST00000696489.1:c.5538G>C ENSP00000512660.1:p.Leu1846=
ENST00000696490.1:c.5538G>C ENSP00000512661.1:p.Leu1846=
ENST00000282041.11:c.5538G>C MANE Select ENSP00000282041.4:p.Leu1846=
ENST00000282041.9:c.5538G>C ENSP00000282041.4:p.Leu1846=
ENST00000585906.5:n.2317G>C
ENST00000587884.1:c.*1278G>C ENSP00000466990.1:n.*1278G>C
ENST00000590884.5:c.*133G>C ENSP00000466403.1:n.*133G>C
ENST00000592272.5:c.2163G>C ENSP00000467464.1:p.Leu721=
NM_020964.2:c.5538G>C NP_066015.2:p.Leu1846=
XM_011526120.1:c.5565G>C XP_011524422.1:p.Leu1855=
XM_011526121.1:c.5565G>C XP_011524423.1:p.Leu1855=
XM_011526122.1:c.5538G>C XP_011524424.1:p.Leu1846=
XM_011526123.1:c.5565G>C XP_011524425.1:p.Leu1855=
XM_011526124.1:c.5565G>C XP_011524426.1:p.Leu1855=
XM_011526125.1:c.5424G>C XP_011524427.1:p.Leu1808=
XM_011526126.1:c.4500G>C XP_011524428.1:p.Leu1500=
XM_011526127.1:c.5565G>C XP_011524429.1:p.Leu1855=
XR_935244.1:n.5638G>C
NM_020964.3:c.5538G>C MANE Select NP_066015.2:p.Leu1846=
XM_017025889.1:c.5538G>C XP_016881378.1:p.Leu1846=
XM_017025890.2:c.5538G>C XP_016881379.1:p.Leu1846=
XM_017025891.1:c.5397G>C XP_016881380.1:p.Leu1799=
XM_017025892.1:c.4473G>C XP_016881381.1:p.Leu1491=
XM_017025893.1:c.2163G>C XP_016881382.1:p.Leu721=
XR_001753256.1:n.5620G>C
XR_001753257.1:n.5564G>C