Canonical Allele Identifier: CA402344572
Community Standard Title: NM_020964.3(EPG5):c.5510T>C (p.Leu1837Pro)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882282A>G , CM000680.2:g.45882282A>G GRCh38
NC_000018.9:g.43462247A>G , CM000680.1:g.43462247A>G GRCh37
NC_000018.8:g.41716245A>G NCBI36
NG_042838.1:g.90058T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5510T>C MANE Select NP_066015.2:p.Leu1837Pro
ENST00000282041.11:c.5510T>C MANE Select ENSP00000282041.4:p.Leu1837Pro
NM_020964.2:c.5510T>C NP_066015.2:p.Leu1837Pro
ENST00000282041.9:c.5510T>C ENSP00000282041.4:p.Leu1837Pro
ENST00000585906.5:n.2289T>C
ENST00000586655.2:n.3771T>C
ENST00000587884.1:c.*1250T>C ENSP00000466990.1:n.*1250T>C
ENST00000587884.2:c.5636T>C ENSP00000466990.2:n.5636T>C
ENST00000587973.2:n.1375T>C
ENST00000590884.5:c.*105T>C ENSP00000466403.1:n.*105T>C
ENST00000590884.6:c.5454T>C ENSP00000466403.2:n.5454T>C
ENST00000592272.5:c.2135T>C ENSP00000467464.1:p.Leu712Pro
ENST00000592272.6:c.5510T>C ENSP00000467464.2:p.Leu1837Pro
ENST00000696481.1:n.2142T>C
ENST00000696482.1:c.5250T>C ENSP00000512656.1:n.5250T>C
ENST00000696483.1:c.5510T>C ENSP00000512657.1:p.Leu1837Pro
ENST00000696484.1:c.5510T>C ENSP00000512658.1:p.Leu1837Pro
ENST00000696485.1:c.*105T>C ENSP00000512659.1:n.*105T>C
ENST00000696489.1:c.5510T>C ENSP00000512660.1:p.Leu1837Pro
ENST00000696490.1:c.5510T>C ENSP00000512661.1:p.Leu1837Pro
XM_011526120.1:c.5537T>C XP_011524422.1:p.Leu1846Pro
XM_011526121.1:c.5537T>C XP_011524423.1:p.Leu1846Pro
XM_011526122.1:c.5510T>C XP_011524424.1:p.Leu1837Pro
XM_011526123.1:c.5537T>C XP_011524425.1:p.Leu1846Pro
XM_011526124.1:c.5537T>C XP_011524426.1:p.Leu1846Pro
XM_011526125.1:c.5396T>C XP_011524427.1:p.Leu1799Pro
XM_011526126.1:c.4472T>C XP_011524428.1:p.Leu1491Pro
XM_011526127.1:c.5537T>C XP_011524429.1:p.Leu1846Pro
XM_017025889.1:c.5510T>C XP_016881378.1:p.Leu1837Pro
XM_017025890.2:c.5510T>C XP_016881379.1:p.Leu1837Pro
XM_017025891.1:c.5369T>C XP_016881380.1:p.Leu1790Pro
XM_017025892.1:c.4445T>C XP_016881381.1:p.Leu1482Pro
XM_017025893.1:c.2135T>C XP_016881382.1:p.Leu712Pro
XR_001753256.1:n.5592T>C
XR_001753257.1:n.5536T>C
XR_935244.1:n.5610T>C