Canonical Allele Identifier: CA503800626
Community Standard Title: NM_020964.3(EPG5):c.5508G>C (p.Leu1836=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882284C>G , CM000680.2:g.45882284C>G GRCh38
NC_000018.9:g.43462249C>G , CM000680.1:g.43462249C>G GRCh37
NC_000018.8:g.41716247C>G NCBI36
NG_042838.1:g.90056G>C

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5508G>C MANE Select NP_066015.2:p.Leu1836=
ENST00000282041.11:c.5508G>C MANE Select ENSP00000282041.4:p.Leu1836=
NM_020964.2:c.5508G>C NP_066015.2:p.Leu1836=
ENST00000282041.9:c.5508G>C ENSP00000282041.4:p.Leu1836=
ENST00000585906.5:n.2287G>C
ENST00000586655.2:n.3769G>C
ENST00000587884.1:c.*1248G>C ENSP00000466990.1:n.*1248G>C
ENST00000587884.2:c.5634G>C ENSP00000466990.2:n.5634G>C
ENST00000587973.2:n.1373G>C
ENST00000590884.5:c.*103G>C ENSP00000466403.1:n.*103G>C
ENST00000590884.6:c.5452G>C ENSP00000466403.2:n.5452G>C
ENST00000592272.5:c.2133G>C ENSP00000467464.1:p.Leu711=
ENST00000592272.6:c.5508G>C ENSP00000467464.2:p.Leu1836=
ENST00000696481.1:n.2140G>C
ENST00000696482.1:c.5248G>C ENSP00000512656.1:n.5248G>C
ENST00000696483.1:c.5508G>C ENSP00000512657.1:p.Leu1836=
ENST00000696484.1:c.5508G>C ENSP00000512658.1:p.Leu1836=
ENST00000696485.1:c.*103G>C ENSP00000512659.1:n.*103G>C
ENST00000696489.1:c.5508G>C ENSP00000512660.1:p.Leu1836=
ENST00000696490.1:c.5508G>C ENSP00000512661.1:p.Leu1836=
XM_011526120.1:c.5535G>C XP_011524422.1:p.Leu1845=
XM_011526121.1:c.5535G>C XP_011524423.1:p.Leu1845=
XM_011526122.1:c.5508G>C XP_011524424.1:p.Leu1836=
XM_011526123.1:c.5535G>C XP_011524425.1:p.Leu1845=
XM_011526124.1:c.5535G>C XP_011524426.1:p.Leu1845=
XM_011526125.1:c.5394G>C XP_011524427.1:p.Leu1798=
XM_011526126.1:c.4470G>C XP_011524428.1:p.Leu1490=
XM_011526127.1:c.5535G>C XP_011524429.1:p.Leu1845=
XM_017025889.1:c.5508G>C XP_016881378.1:p.Leu1836=
XM_017025890.2:c.5508G>C XP_016881379.1:p.Leu1836=
XM_017025891.1:c.5367G>C XP_016881380.1:p.Leu1789=
XM_017025892.1:c.4443G>C XP_016881381.1:p.Leu1481=
XM_017025893.1:c.2133G>C XP_016881382.1:p.Leu711=
XR_001753256.1:n.5590G>C
XR_001753257.1:n.5534G>C
XR_935244.1:n.5608G>C