Canonical Allele Identifier: CA402344552
Community Standard Title: NM_020964.3(EPG5):c.5518A>G (p.Ser1840Gly)
Gene: EPG5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5518A>G MANE Select NP_066015.2:p.Ser1840Gly
ENST00000282041.11:c.5518A>G MANE Select ENSP00000282041.4:p.Ser1840Gly
NM_020964.2:c.5518A>G NP_066015.2:p.Ser1840Gly
ENST00000282041.9:c.5518A>G ENSP00000282041.4:p.Ser1840Gly
ENST00000585906.5:n.2297A>G
ENST00000586655.2:n.3779A>G
ENST00000587884.1:c.*1258A>G ENSP00000466990.1:n.*1258A>G
ENST00000587884.2:c.5644A>G ENSP00000466990.2:n.5644A>G
ENST00000587973.2:n.1383A>G
ENST00000590884.5:c.*113A>G ENSP00000466403.1:n.*113A>G
ENST00000590884.6:c.5462A>G ENSP00000466403.2:n.5462A>G
ENST00000592272.5:c.2143A>G ENSP00000467464.1:p.Ser715Gly
ENST00000592272.6:c.5518A>G ENSP00000467464.2:p.Ser1840Gly
ENST00000696481.1:n.2150A>G
ENST00000696482.1:c.5258A>G ENSP00000512656.1:n.5258A>G
ENST00000696483.1:c.5518A>G ENSP00000512657.1:p.Ser1840Gly
ENST00000696484.1:c.5518A>G ENSP00000512658.1:p.Ser1840Gly
ENST00000696485.1:c.*113A>G ENSP00000512659.1:n.*113A>G
ENST00000696489.1:c.5518A>G ENSP00000512660.1:p.Ser1840Gly
ENST00000696490.1:c.5518A>G ENSP00000512661.1:p.Ser1840Gly
XM_011526120.1:c.5545A>G XP_011524422.1:p.Ser1849Gly
XM_011526121.1:c.5545A>G XP_011524423.1:p.Ser1849Gly
XM_011526122.1:c.5518A>G XP_011524424.1:p.Ser1840Gly
XM_011526123.1:c.5545A>G XP_011524425.1:p.Ser1849Gly
XM_011526124.1:c.5545A>G XP_011524426.1:p.Ser1849Gly
XM_011526125.1:c.5404A>G XP_011524427.1:p.Ser1802Gly
XM_011526126.1:c.4480A>G XP_011524428.1:p.Ser1494Gly
XM_011526127.1:c.5545A>G XP_011524429.1:p.Ser1849Gly
XM_017025889.1:c.5518A>G XP_016881378.1:p.Ser1840Gly
XM_017025890.2:c.5518A>G XP_016881379.1:p.Ser1840Gly
XM_017025891.1:c.5377A>G XP_016881380.1:p.Ser1793Gly
XM_017025892.1:c.4453A>G XP_016881381.1:p.Ser1485Gly
XM_017025893.1:c.2143A>G XP_016881382.1:p.Ser715Gly
XR_001753256.1:n.5600A>G
XR_001753257.1:n.5544A>G
XR_935244.1:n.5618A>G