Canonical Allele Identifier: CA2300578848
Community Standard Title: NM_020964.3(EPG5):c.5420T= (p.Ile1807=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882372A= , CM000680.2:g.45882372A= GRCh38
NC_000018.9:g.43462337A= , CM000680.1:g.43462337A= GRCh37
NC_000018.8:g.41716335A= NCBI36
NG_042838.1:g.89968T=

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5420T= MANE Select NP_066015.2:p.Ile1807=
ENST00000282041.11:c.5420T= MANE Select ENSP00000282041.4:p.Ile1807=
NM_020964.2:c.5420T= NP_066015.2:p.Ile1807=
ENST00000282041.9:c.5420T= ENSP00000282041.4:p.Ile1807=
ENST00000585906.5:n.2199T=
ENST00000586655.2:n.3681T=
ENST00000587884.1:c.*1160T= ENSP00000466990.1:n.*1160T=
ENST00000587884.2:c.5546T= ENSP00000466990.2:n.5546T=
ENST00000587973.2:n.1285T=
ENST00000590884.5:c.*15T= ENSP00000466403.1:n.*15T=
ENST00000590884.6:c.5364T= ENSP00000466403.2:n.5364T=
ENST00000592272.5:c.2045T= ENSP00000467464.1:p.Ile682=
ENST00000592272.6:c.5420T= ENSP00000467464.2:p.Ile1807=
ENST00000696481.1:n.2052T=
ENST00000696482.1:c.5160T= ENSP00000512656.1:n.5160T=
ENST00000696483.1:c.5420T= ENSP00000512657.1:p.Ile1807=
ENST00000696484.1:c.5420T= ENSP00000512658.1:p.Ile1807=
ENST00000696485.1:c.*15T= ENSP00000512659.1:n.*15T=
ENST00000696489.1:c.5420T= ENSP00000512660.1:p.Ile1807=
ENST00000696490.1:c.5420T= ENSP00000512661.1:p.Ile1807=
XM_011526120.1:c.5447T= XP_011524422.1:p.Ile1816=
XM_011526121.1:c.5447T= XP_011524423.1:p.Ile1816=
XM_011526122.1:c.5420T= XP_011524424.1:p.Ile1807=
XM_011526123.1:c.5447T= XP_011524425.1:p.Ile1816=
XM_011526124.1:c.5447T= XP_011524426.1:p.Ile1816=
XM_011526125.1:c.5306T= XP_011524427.1:p.Ile1769=
XM_011526126.1:c.4382T= XP_011524428.1:p.Ile1461=
XM_011526127.1:c.5447T= XP_011524429.1:p.Ile1816=
XM_011526128.1:c.*15T= XP_011524430.1:n.*15T=
XM_017025889.1:c.5420T= XP_016881378.1:p.Ile1807=
XM_017025890.2:c.5420T= XP_016881379.1:p.Ile1807=
XM_017025891.1:c.5279T= XP_016881380.1:p.Ile1760=
XM_017025892.1:c.4355T= XP_016881381.1:p.Ile1452=
XM_017025893.1:c.2045T= XP_016881382.1:p.Ile682=
XR_001753256.1:n.5502T=
XR_001753257.1:n.5446T=
XR_935244.1:n.5520T=