Canonical Allele Identifier: CA3232779289
Community Standard Title: NM_020964.3(EPG5):c.5516A= (p.Gln1839=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882276T= , CM000680.2:g.45882276T= GRCh38
NC_000018.9:g.43462241T= , CM000680.1:g.43462241T= GRCh37
NC_000018.8:g.41716239T= NCBI36
NG_042838.1:g.90064A=

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5516A= MANE Select NP_066015.2:p.Gln1839=
ENST00000282041.11:c.5516A= MANE Select ENSP00000282041.4:p.Gln1839=
NM_020964.2:c.5516A= NP_066015.2:p.Gln1839=
ENST00000282041.9:c.5516A= ENSP00000282041.4:p.Gln1839=
ENST00000585906.5:n.2295A=
ENST00000586655.2:n.3777A=
ENST00000587884.1:c.*1256A= ENSP00000466990.1:n.*1256A=
ENST00000587884.2:c.5642A= ENSP00000466990.2:n.5642A=
ENST00000587973.2:n.1381A=
ENST00000590884.5:c.*111A= ENSP00000466403.1:n.*111A=
ENST00000590884.6:c.5460A= ENSP00000466403.2:n.5460A=
ENST00000592272.5:c.2141A= ENSP00000467464.1:p.Gln714=
ENST00000592272.6:c.5516A= ENSP00000467464.2:p.Gln1839=
ENST00000696481.1:n.2148A=
ENST00000696482.1:c.5256A= ENSP00000512656.1:n.5256A=
ENST00000696483.1:c.5516A= ENSP00000512657.1:p.Gln1839=
ENST00000696484.1:c.5516A= ENSP00000512658.1:p.Gln1839=
ENST00000696485.1:c.*111A= ENSP00000512659.1:n.*111A=
ENST00000696489.1:c.5516A= ENSP00000512660.1:p.Gln1839=
ENST00000696490.1:c.5516A= ENSP00000512661.1:p.Gln1839=
XM_011526120.1:c.5543A= XP_011524422.1:p.Gln1848=
XM_011526121.1:c.5543A= XP_011524423.1:p.Gln1848=
XM_011526122.1:c.5516A= XP_011524424.1:p.Gln1839=
XM_011526123.1:c.5543A= XP_011524425.1:p.Gln1848=
XM_011526124.1:c.5543A= XP_011524426.1:p.Gln1848=
XM_011526125.1:c.5402A= XP_011524427.1:p.Gln1801=
XM_011526126.1:c.4478A= XP_011524428.1:p.Gln1493=
XM_011526127.1:c.5543A= XP_011524429.1:p.Gln1848=
XM_017025889.1:c.5516A= XP_016881378.1:p.Gln1839=
XM_017025890.2:c.5516A= XP_016881379.1:p.Gln1839=
XM_017025891.1:c.5375A= XP_016881380.1:p.Gln1792=
XM_017025892.1:c.4451A= XP_016881381.1:p.Gln1484=
XM_017025893.1:c.2141A= XP_016881382.1:p.Gln714=
XR_001753256.1:n.5598A=
XR_001753257.1:n.5542A=
XR_935244.1:n.5616A=