Canonical Allele Identifier: CA402343951
Community Standard Title: NM_020964.3(EPG5):c.5520C>A (p.Ser1840Arg)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45880222G>T , CM000680.2:g.45880222G>T GRCh38
NC_000018.9:g.43460187G>T , CM000680.1:g.43460187G>T GRCh37
NC_000018.8:g.41714185G>T NCBI36
NG_042838.1:g.92118C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5520C>A MANE Select NP_066015.2:p.Ser1840Arg
ENST00000282041.11:c.5520C>A MANE Select ENSP00000282041.4:p.Ser1840Arg
NM_020964.2:c.5520C>A NP_066015.2:p.Ser1840Arg
ENST00000282041.9:c.5520C>A ENSP00000282041.4:p.Ser1840Arg
ENST00000585906.5:n.2299C>A
ENST00000586655.2:n.3781C>A
ENST00000587884.1:c.*1260C>A ENSP00000466990.1:n.*1260C>A
ENST00000587884.2:c.5646C>A ENSP00000466990.2:n.5646C>A
ENST00000587973.2:n.1385C>A
ENST00000590884.5:c.*115C>A ENSP00000466403.1:n.*115C>A
ENST00000590884.6:c.5464C>A ENSP00000466403.2:n.5464C>A
ENST00000592272.5:c.2145C>A ENSP00000467464.1:p.Ser715Arg
ENST00000592272.6:c.5520C>A ENSP00000467464.2:p.Ser1840Arg
ENST00000696481.1:n.2152C>A
ENST00000696482.1:c.5260C>A ENSP00000512656.1:n.5260C>A
ENST00000696483.1:c.5520C>A ENSP00000512657.1:p.Ser1840Arg
ENST00000696484.1:c.5520C>A ENSP00000512658.1:p.Ser1840Arg
ENST00000696485.1:c.*115C>A ENSP00000512659.1:n.*115C>A
ENST00000696489.1:c.5520C>A ENSP00000512660.1:p.Ser1840Arg
ENST00000696490.1:c.5520C>A ENSP00000512661.1:p.Ser1840Arg
XM_011526120.1:c.5547C>A XP_011524422.1:p.Ser1849Arg
XM_011526121.1:c.5547C>A XP_011524423.1:p.Ser1849Arg
XM_011526122.1:c.5520C>A XP_011524424.1:p.Ser1840Arg
XM_011526123.1:c.5547C>A XP_011524425.1:p.Ser1849Arg
XM_011526124.1:c.5547C>A XP_011524426.1:p.Ser1849Arg
XM_011526125.1:c.5406C>A XP_011524427.1:p.Ser1802Arg
XM_011526126.1:c.4482C>A XP_011524428.1:p.Ser1494Arg
XM_011526127.1:c.5547C>A XP_011524429.1:p.Ser1849Arg
XM_017025889.1:c.5520C>A XP_016881378.1:p.Ser1840Arg
XM_017025890.2:c.5520C>A XP_016881379.1:p.Ser1840Arg
XM_017025891.1:c.5379C>A XP_016881380.1:p.Ser1793Arg
XM_017025892.1:c.4455C>A XP_016881381.1:p.Ser1485Arg
XM_017025893.1:c.2145C>A XP_016881382.1:p.Ser715Arg
XR_001753256.1:n.5602C>A
XR_001753257.1:n.5546C>A
XR_935244.1:n.5620C>A