Canonical Allele Identifier: CA503792622
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45899554A>T , CM000680.2:g.45899554A>T GRCh38
NC_000018.9:g.43479519A>T , CM000680.1:g.43479519A>T GRCh37
NC_000018.8:g.41733517A>T NCBI36
NG_042838.1:g.72786T>A

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.4659T>A MANE Select NP_066015.2:p.Leu1553=
ENST00000282041.11:c.4659T>A MANE Select ENSP00000282041.4:p.Leu1553=
NM_020964.2:c.4659T>A NP_066015.2:p.Leu1553=
ENST00000282041.9:c.4659T>A ENSP00000282041.4:p.Leu1553=
ENST00000585906.5:n.1438T>A
ENST00000586655.2:n.2976T>A
ENST00000587884.1:c.*399T>A ENSP00000466990.1:n.*399T>A
ENST00000587884.2:c.4785T>A ENSP00000466990.2:n.4785T>A
ENST00000590884.5:c.1284T>A ENSP00000466403.1:p.Leu428=
ENST00000590884.6:c.4659T>A ENSP00000466403.2:p.Leu1553=
ENST00000592272.5:c.1284T>A ENSP00000467464.1:p.Leu428=
ENST00000592272.6:c.4659T>A ENSP00000467464.2:p.Leu1553=
ENST00000696482.1:c.4399T>A ENSP00000512656.1:n.4399T>A
ENST00000696483.1:c.4659T>A ENSP00000512657.1:p.Leu1553=
ENST00000696484.1:c.4659T>A ENSP00000512658.1:p.Leu1553=
ENST00000696485.1:c.4659T>A ENSP00000512659.1:p.Leu1553=
ENST00000696489.1:c.4659T>A ENSP00000512660.1:p.Leu1553=
ENST00000696490.1:c.4659T>A ENSP00000512661.1:p.Leu1553=
ENST00000696785.1:n.3159T>A
XM_011526120.1:c.4686T>A XP_011524422.1:p.Leu1562=
XM_011526121.1:c.4686T>A XP_011524423.1:p.Leu1562=
XM_011526122.1:c.4659T>A XP_011524424.1:p.Leu1553=
XM_011526123.1:c.4686T>A XP_011524425.1:p.Leu1562=
XM_011526124.1:c.4686T>A XP_011524426.1:p.Leu1562=
XM_011526125.1:c.4545T>A XP_011524427.1:p.Leu1515=
XM_011526126.1:c.3621T>A XP_011524428.1:p.Leu1207=
XM_011526127.1:c.4686T>A XP_011524429.1:p.Leu1562=
XM_011526128.1:c.4686T>A XP_011524430.1:p.Leu1562=
XM_017025889.1:c.4659T>A XP_016881378.1:p.Leu1553=
XM_017025890.2:c.4659T>A XP_016881379.1:p.Leu1553=
XM_017025891.1:c.4518T>A XP_016881380.1:p.Leu1506=
XM_017025892.1:c.3594T>A XP_016881381.1:p.Leu1198=
XM_017025893.1:c.1284T>A XP_016881382.1:p.Leu428=
XR_001753256.1:n.4741T>A
XR_001753257.1:n.4741T>A
XR_935244.1:n.4759T>A