Canonical Allele Identifier: CA402344561
Community Standard Title: NM_020964.3(EPG5):c.5515C>A (p.Gln1839Lys)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882277G>T , CM000680.2:g.45882277G>T GRCh38
NC_000018.9:g.43462242G>T , CM000680.1:g.43462242G>T GRCh37
NC_000018.8:g.41716240G>T NCBI36
NG_042838.1:g.90063C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5515C>A MANE Select NP_066015.2:p.Gln1839Lys
ENST00000282041.11:c.5515C>A MANE Select ENSP00000282041.4:p.Gln1839Lys
NM_020964.2:c.5515C>A NP_066015.2:p.Gln1839Lys
ENST00000282041.9:c.5515C>A ENSP00000282041.4:p.Gln1839Lys
ENST00000585906.5:n.2294C>A
ENST00000586655.2:n.3776C>A
ENST00000587884.1:c.*1255C>A ENSP00000466990.1:n.*1255C>A
ENST00000587884.2:c.5641C>A ENSP00000466990.2:n.5641C>A
ENST00000587973.2:n.1380C>A
ENST00000590884.5:c.*110C>A ENSP00000466403.1:n.*110C>A
ENST00000590884.6:c.5459C>A ENSP00000466403.2:n.5459C>A
ENST00000592272.5:c.2140C>A ENSP00000467464.1:p.Gln714Lys
ENST00000592272.6:c.5515C>A ENSP00000467464.2:p.Gln1839Lys
ENST00000696481.1:n.2147C>A
ENST00000696482.1:c.5255C>A ENSP00000512656.1:n.5255C>A
ENST00000696483.1:c.5515C>A ENSP00000512657.1:p.Gln1839Lys
ENST00000696484.1:c.5515C>A ENSP00000512658.1:p.Gln1839Lys
ENST00000696485.1:c.*110C>A ENSP00000512659.1:n.*110C>A
ENST00000696489.1:c.5515C>A ENSP00000512660.1:p.Gln1839Lys
ENST00000696490.1:c.5515C>A ENSP00000512661.1:p.Gln1839Lys
XM_011526120.1:c.5542C>A XP_011524422.1:p.Gln1848Lys
XM_011526121.1:c.5542C>A XP_011524423.1:p.Gln1848Lys
XM_011526122.1:c.5515C>A XP_011524424.1:p.Gln1839Lys
XM_011526123.1:c.5542C>A XP_011524425.1:p.Gln1848Lys
XM_011526124.1:c.5542C>A XP_011524426.1:p.Gln1848Lys
XM_011526125.1:c.5401C>A XP_011524427.1:p.Gln1801Lys
XM_011526126.1:c.4477C>A XP_011524428.1:p.Gln1493Lys
XM_011526127.1:c.5542C>A XP_011524429.1:p.Gln1848Lys
XM_017025889.1:c.5515C>A XP_016881378.1:p.Gln1839Lys
XM_017025890.2:c.5515C>A XP_016881379.1:p.Gln1839Lys
XM_017025891.1:c.5374C>A XP_016881380.1:p.Gln1792Lys
XM_017025892.1:c.4450C>A XP_016881381.1:p.Gln1484Lys
XM_017025893.1:c.2140C>A XP_016881382.1:p.Gln714Lys
XR_001753256.1:n.5597C>A
XR_001753257.1:n.5541C>A
XR_935244.1:n.5615C>A