Canonical Allele Identifier: CA214396
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45901054G>A , CM000680.2:g.45901054G>A GRCh38
NC_000018.9:g.43481019G>A , CM000680.1:g.43481019G>A GRCh37
NC_000018.8:g.41735017G>A NCBI36
NG_042838.1:g.71286C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.4588C>T MANE Select NP_066015.2:p.Gln1530Ter
ENST00000282041.11:c.4588C>T MANE Select ENSP00000282041.4:p.Gln1530Ter
NM_020964.2:c.4588C>T NP_066015.2:p.Gln1530Ter
ENST00000282041.9:c.4588C>T ENSP00000282041.4:p.Gln1530Ter
ENST00000585906.5:n.1367C>T
ENST00000586655.2:n.2905C>T
ENST00000587884.1:c.*328C>T ENSP00000466990.1:n.*328C>T
ENST00000587884.2:c.4714C>T ENSP00000466990.2:n.4714C>T
ENST00000590884.5:c.1213C>T ENSP00000466403.1:p.Gln405Ter
ENST00000590884.6:c.4588C>T ENSP00000466403.2:p.Gln1530Ter
ENST00000592272.5:c.1213C>T ENSP00000467464.1:p.Gln405Ter
ENST00000592272.6:c.4588C>T ENSP00000467464.2:p.Gln1530Ter
ENST00000696482.1:c.4328C>T ENSP00000512656.1:n.4328C>T
ENST00000696483.1:c.4588C>T ENSP00000512657.1:p.Gln1530Ter
ENST00000696484.1:c.4588C>T ENSP00000512658.1:p.Gln1530Ter
ENST00000696485.1:c.4588C>T ENSP00000512659.1:p.Gln1530Ter
ENST00000696489.1:c.4588C>T ENSP00000512660.1:p.Gln1530Ter
ENST00000696490.1:c.4588C>T ENSP00000512661.1:p.Gln1530Ter
ENST00000696785.1:n.1659C>T
XM_011526120.1:c.4615C>T XP_011524422.1:p.Gln1539Ter
XM_011526121.1:c.4615C>T XP_011524423.1:p.Gln1539Ter
XM_011526122.1:c.4588C>T XP_011524424.1:p.Gln1530Ter
XM_011526123.1:c.4615C>T XP_011524425.1:p.Gln1539Ter
XM_011526124.1:c.4615C>T XP_011524426.1:p.Gln1539Ter
XM_011526125.1:c.4474C>T XP_011524427.1:p.Gln1492Ter
XM_011526126.1:c.3550C>T XP_011524428.1:p.Gln1184Ter
XM_011526127.1:c.4615C>T XP_011524429.1:p.Gln1539Ter
XM_011526128.1:c.4615C>T XP_011524430.1:p.Gln1539Ter
XM_017025889.1:c.4588C>T XP_016881378.1:p.Gln1530Ter
XM_017025890.2:c.4588C>T XP_016881379.1:p.Gln1530Ter
XM_017025891.1:c.4447C>T XP_016881380.1:p.Gln1483Ter
XM_017025892.1:c.3523C>T XP_016881381.1:p.Gln1175Ter
XM_017025893.1:c.1213C>T XP_016881382.1:p.Gln405Ter
XR_001753256.1:n.4670C>T
XR_001753257.1:n.4670C>T
XR_935244.1:n.4688C>T