Canonical Allele Identifier: CA402344551
Community Standard Title: NM_020964.3(EPG5):c.5518A>T (p.Ser1840Cys)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882274T>A , CM000680.2:g.45882274T>A GRCh38
NC_000018.9:g.43462239T>A , CM000680.1:g.43462239T>A GRCh37
NC_000018.8:g.41716237T>A NCBI36
NG_042838.1:g.90066A>T

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5518A>T MANE Select NP_066015.2:p.Ser1840Cys
ENST00000282041.11:c.5518A>T MANE Select ENSP00000282041.4:p.Ser1840Cys
NM_020964.2:c.5518A>T NP_066015.2:p.Ser1840Cys
ENST00000282041.9:c.5518A>T ENSP00000282041.4:p.Ser1840Cys
ENST00000585906.5:n.2297A>T
ENST00000586655.2:n.3779A>T
ENST00000587884.1:c.*1258A>T ENSP00000466990.1:n.*1258A>T
ENST00000587884.2:c.5644A>T ENSP00000466990.2:n.5644A>T
ENST00000587973.2:n.1383A>T
ENST00000590884.5:c.*113A>T ENSP00000466403.1:n.*113A>T
ENST00000590884.6:c.5462A>T ENSP00000466403.2:n.5462A>T
ENST00000592272.5:c.2143A>T ENSP00000467464.1:p.Ser715Cys
ENST00000592272.6:c.5518A>T ENSP00000467464.2:p.Ser1840Cys
ENST00000696481.1:n.2150A>T
ENST00000696482.1:c.5258A>T ENSP00000512656.1:n.5258A>T
ENST00000696483.1:c.5518A>T ENSP00000512657.1:p.Ser1840Cys
ENST00000696484.1:c.5518A>T ENSP00000512658.1:p.Ser1840Cys
ENST00000696485.1:c.*113A>T ENSP00000512659.1:n.*113A>T
ENST00000696489.1:c.5518A>T ENSP00000512660.1:p.Ser1840Cys
ENST00000696490.1:c.5518A>T ENSP00000512661.1:p.Ser1840Cys
XM_011526120.1:c.5545A>T XP_011524422.1:p.Ser1849Cys
XM_011526121.1:c.5545A>T XP_011524423.1:p.Ser1849Cys
XM_011526122.1:c.5518A>T XP_011524424.1:p.Ser1840Cys
XM_011526123.1:c.5545A>T XP_011524425.1:p.Ser1849Cys
XM_011526124.1:c.5545A>T XP_011524426.1:p.Ser1849Cys
XM_011526125.1:c.5404A>T XP_011524427.1:p.Ser1802Cys
XM_011526126.1:c.4480A>T XP_011524428.1:p.Ser1494Cys
XM_011526127.1:c.5545A>T XP_011524429.1:p.Ser1849Cys
XM_017025889.1:c.5518A>T XP_016881378.1:p.Ser1840Cys
XM_017025890.2:c.5518A>T XP_016881379.1:p.Ser1840Cys
XM_017025891.1:c.5377A>T XP_016881380.1:p.Ser1793Cys
XM_017025892.1:c.4453A>T XP_016881381.1:p.Ser1485Cys
XM_017025893.1:c.2143A>T XP_016881382.1:p.Ser715Cys
XR_001753256.1:n.5600A>T
XR_001753257.1:n.5544A>T
XR_935244.1:n.5618A>T