Canonical Allele Identifier: CA2300586787
Gene: EPG5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.4588C= MANE Select NP_066015.2:p.Gln1530=
ENST00000282041.11:c.4588C= MANE Select ENSP00000282041.4:p.Gln1530=
NM_020964.2:c.4588C= NP_066015.2:p.Gln1530=
ENST00000282041.9:c.4588C= ENSP00000282041.4:p.Gln1530=
ENST00000585906.5:n.1367C=
ENST00000586655.2:n.2905C=
ENST00000587884.1:c.*328C= ENSP00000466990.1:n.*328C=
ENST00000587884.2:c.4714C= ENSP00000466990.2:n.4714C=
ENST00000590884.5:c.1213C= ENSP00000466403.1:p.Gln405=
ENST00000590884.6:c.4588C= ENSP00000466403.2:p.Gln1530=
ENST00000592272.5:c.1213C= ENSP00000467464.1:p.Gln405=
ENST00000592272.6:c.4588C= ENSP00000467464.2:p.Gln1530=
ENST00000696482.1:c.4328C= ENSP00000512656.1:n.4328C=
ENST00000696483.1:c.4588C= ENSP00000512657.1:p.Gln1530=
ENST00000696484.1:c.4588C= ENSP00000512658.1:p.Gln1530=
ENST00000696485.1:c.4588C= ENSP00000512659.1:p.Gln1530=
ENST00000696489.1:c.4588C= ENSP00000512660.1:p.Gln1530=
ENST00000696490.1:c.4588C= ENSP00000512661.1:p.Gln1530=
ENST00000696785.1:n.1659C=
XM_011526120.1:c.4615C= XP_011524422.1:p.Gln1539=
XM_011526121.1:c.4615C= XP_011524423.1:p.Gln1539=
XM_011526122.1:c.4588C= XP_011524424.1:p.Gln1530=
XM_011526123.1:c.4615C= XP_011524425.1:p.Gln1539=
XM_011526124.1:c.4615C= XP_011524426.1:p.Gln1539=
XM_011526125.1:c.4474C= XP_011524427.1:p.Gln1492=
XM_011526126.1:c.3550C= XP_011524428.1:p.Gln1184=
XM_011526127.1:c.4615C= XP_011524429.1:p.Gln1539=
XM_011526128.1:c.4615C= XP_011524430.1:p.Gln1539=
XM_017025889.1:c.4588C= XP_016881378.1:p.Gln1530=
XM_017025890.2:c.4588C= XP_016881379.1:p.Gln1530=
XM_017025891.1:c.4447C= XP_016881380.1:p.Gln1483=
XM_017025892.1:c.3523C= XP_016881381.1:p.Gln1175=
XM_017025893.1:c.1213C= XP_016881382.1:p.Gln405=
XR_001753256.1:n.4670C=
XR_001753257.1:n.4670C=
XR_935244.1:n.4688C=