Canonical Allele Identifier: CA2300590846
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45910540G= , CM000680.2:g.45910540G= GRCh38
NC_000018.9:g.43490505G= , CM000680.1:g.43490505G= GRCh37
NC_000018.8:g.41744503G= NCBI36
NG_042838.1:g.61800C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000586655.2:n.2370C=
ENST00000587884.2:c.4186C= ENSP00000466990.2:p.Leu1396=
ENST00000590884.6:c.4186C= ENSP00000466403.2:p.Leu1396=
ENST00000592272.6:c.4186C= ENSP00000467464.2:p.Leu1396=
ENST00000696482.1:c.3926C= ENSP00000512656.1:n.3926C=
ENST00000696483.1:c.4186C= ENSP00000512657.1:p.Leu1396=
ENST00000696484.1:c.4186C= ENSP00000512658.1:p.Leu1396=
ENST00000696485.1:c.4186C= ENSP00000512659.1:p.Leu1396=
ENST00000696489.1:c.4186C= ENSP00000512660.1:p.Leu1396=
ENST00000696490.1:c.4186C= ENSP00000512661.1:p.Leu1396=
ENST00000282041.11:c.4186C= MANE Select ENSP00000282041.4:p.Leu1396=
ENST00000282041.9:c.4186C= ENSP00000282041.4:p.Leu1396=
ENST00000585906.5:n.965C=
ENST00000587884.1:c.811C= ENSP00000466990.1:p.Leu271=
ENST00000587974.1:n.4221C=
ENST00000590884.5:c.811C= ENSP00000466403.1:p.Leu271=
ENST00000592272.5:c.811C= ENSP00000467464.1:p.Leu271=
NM_020964.2:c.4186C= NP_066015.2:p.Leu1396=
XM_011526120.1:c.4213C= XP_011524422.1:p.Leu1405=
XM_011526121.1:c.4213C= XP_011524423.1:p.Leu1405=
XM_011526122.1:c.4186C= XP_011524424.1:p.Leu1396=
XM_011526123.1:c.4213C= XP_011524425.1:p.Leu1405=
XM_011526124.1:c.4213C= XP_011524426.1:p.Leu1405=
XM_011526125.1:c.4072C= XP_011524427.1:p.Leu1358=
XM_011526126.1:c.3148C= XP_011524428.1:p.Leu1050=
XM_011526127.1:c.4213C= XP_011524429.1:p.Leu1405=
XM_011526128.1:c.4213C= XP_011524430.1:p.Leu1405=
XR_935244.1:n.4286C=
NM_020964.3:c.4186C= MANE Select NP_066015.2:p.Leu1396=
XM_017025889.1:c.4186C= XP_016881378.1:p.Leu1396=
XM_017025890.2:c.4186C= XP_016881379.1:p.Leu1396=
XM_017025891.1:c.4045C= XP_016881380.1:p.Leu1349=
XM_017025892.1:c.3121C= XP_016881381.1:p.Leu1041=
XM_017025893.1:c.811C= XP_016881382.1:p.Leu271=
XR_001753256.1:n.4268C=
XR_001753257.1:n.4268C=