Canonical Allele Identifier: CA2300578888
Community Standard Title: NM_020964.3(EPG5):c.5313T= (p.Leu1771=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882479A= , CM000680.2:g.45882479A= GRCh38
NC_000018.9:g.43462444A= , CM000680.1:g.43462444A= GRCh37
NC_000018.8:g.41716442A= NCBI36
NG_042838.1:g.89861T=

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5313T= MANE Select NP_066015.2:p.Leu1771=
ENST00000282041.11:c.5313T= MANE Select ENSP00000282041.4:p.Leu1771=
NM_020964.2:c.5313T= NP_066015.2:p.Leu1771=
ENST00000282041.9:c.5313T= ENSP00000282041.4:p.Leu1771=
ENST00000585906.5:n.2092T=
ENST00000586655.2:n.3622-48T=
ENST00000587884.1:c.*1053T= ENSP00000466990.1:n.*1053T=
ENST00000587884.2:c.5439T= ENSP00000466990.2:n.5439T=
ENST00000587973.2:n.1178T=
ENST00000590884.5:c.1930-48T= ENSP00000466403.1:n.1930-48T=
ENST00000590884.6:c.5305-48T= ENSP00000466403.2:n.5305-48T=
ENST00000592272.5:c.1938T= ENSP00000467464.1:p.Leu646=
ENST00000592272.6:c.5313T= ENSP00000467464.2:p.Leu1771=
ENST00000696481.1:n.1945T=
ENST00000696482.1:c.5053T= ENSP00000512656.1:n.5053T=
ENST00000696483.1:c.5313T= ENSP00000512657.1:p.Leu1771=
ENST00000696484.1:c.5313T= ENSP00000512658.1:p.Leu1771=
ENST00000696485.1:c.5305-48T= ENSP00000512659.1:n.5305-48T=
ENST00000696489.1:c.5313T= ENSP00000512660.1:p.Leu1771=
ENST00000696490.1:c.5313T= ENSP00000512661.1:p.Leu1771=
XM_011526120.1:c.5340T= XP_011524422.1:p.Leu1780=
XM_011526121.1:c.5340T= XP_011524423.1:p.Leu1780=
XM_011526122.1:c.5313T= XP_011524424.1:p.Leu1771=
XM_011526123.1:c.5340T= XP_011524425.1:p.Leu1780=
XM_011526124.1:c.5340T= XP_011524426.1:p.Leu1780=
XM_011526125.1:c.5199T= XP_011524427.1:p.Leu1733=
XM_011526126.1:c.4275T= XP_011524428.1:p.Leu1425=
XM_011526127.1:c.5340T= XP_011524429.1:p.Leu1780=
XM_011526128.1:c.5332-48T= XP_011524430.1:n.5332-48T=
XM_017025889.1:c.5313T= XP_016881378.1:p.Leu1771=
XM_017025890.2:c.5313T= XP_016881379.1:p.Leu1771=
XM_017025891.1:c.5172T= XP_016881380.1:p.Leu1724=
XM_017025892.1:c.4248T= XP_016881381.1:p.Leu1416=
XM_017025893.1:c.1938T= XP_016881382.1:p.Leu646=
XR_001753256.1:n.5395T=
XR_001753257.1:n.5387-48T=
XR_935244.1:n.5413T=