Canonical Allele Identifier: CA402344574
Community Standard Title: NM_020964.3(EPG5):c.5509C>T (p.Leu1837Phe)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882283G>A , CM000680.2:g.45882283G>A GRCh38
NC_000018.9:g.43462248G>A , CM000680.1:g.43462248G>A GRCh37
NC_000018.8:g.41716246G>A NCBI36
NG_042838.1:g.90057C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5509C>T MANE Select NP_066015.2:p.Leu1837Phe
ENST00000282041.11:c.5509C>T MANE Select ENSP00000282041.4:p.Leu1837Phe
NM_020964.2:c.5509C>T NP_066015.2:p.Leu1837Phe
ENST00000282041.9:c.5509C>T ENSP00000282041.4:p.Leu1837Phe
ENST00000585906.5:n.2288C>T
ENST00000586655.2:n.3770C>T
ENST00000587884.1:c.*1249C>T ENSP00000466990.1:n.*1249C>T
ENST00000587884.2:c.5635C>T ENSP00000466990.2:n.5635C>T
ENST00000587973.2:n.1374C>T
ENST00000590884.5:c.*104C>T ENSP00000466403.1:n.*104C>T
ENST00000590884.6:c.5453C>T ENSP00000466403.2:n.5453C>T
ENST00000592272.5:c.2134C>T ENSP00000467464.1:p.Leu712Phe
ENST00000592272.6:c.5509C>T ENSP00000467464.2:p.Leu1837Phe
ENST00000696481.1:n.2141C>T
ENST00000696482.1:c.5249C>T ENSP00000512656.1:n.5249C>T
ENST00000696483.1:c.5509C>T ENSP00000512657.1:p.Leu1837Phe
ENST00000696484.1:c.5509C>T ENSP00000512658.1:p.Leu1837Phe
ENST00000696485.1:c.*104C>T ENSP00000512659.1:n.*104C>T
ENST00000696489.1:c.5509C>T ENSP00000512660.1:p.Leu1837Phe
ENST00000696490.1:c.5509C>T ENSP00000512661.1:p.Leu1837Phe
XM_011526120.1:c.5536C>T XP_011524422.1:p.Leu1846Phe
XM_011526121.1:c.5536C>T XP_011524423.1:p.Leu1846Phe
XM_011526122.1:c.5509C>T XP_011524424.1:p.Leu1837Phe
XM_011526123.1:c.5536C>T XP_011524425.1:p.Leu1846Phe
XM_011526124.1:c.5536C>T XP_011524426.1:p.Leu1846Phe
XM_011526125.1:c.5395C>T XP_011524427.1:p.Leu1799Phe
XM_011526126.1:c.4471C>T XP_011524428.1:p.Leu1491Phe
XM_011526127.1:c.5536C>T XP_011524429.1:p.Leu1846Phe
XM_017025889.1:c.5509C>T XP_016881378.1:p.Leu1837Phe
XM_017025890.2:c.5509C>T XP_016881379.1:p.Leu1837Phe
XM_017025891.1:c.5368C>T XP_016881380.1:p.Leu1790Phe
XM_017025892.1:c.4444C>T XP_016881381.1:p.Leu1482Phe
XM_017025893.1:c.2134C>T XP_016881382.1:p.Leu712Phe
XR_001753256.1:n.5591C>T
XR_001753257.1:n.5535C>T
XR_935244.1:n.5609C>T