Canonical Allele Identifier: CA8948595
Community Standard Title: NM_020964.3(EPG5):c.5403T>C (p.Leu1801=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882389A>G , CM000680.2:g.45882389A>G GRCh38
NC_000018.9:g.43462354A>G , CM000680.1:g.43462354A>G GRCh37
NC_000018.8:g.41716352A>G NCBI36
NG_042838.1:g.89951T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5403T>C MANE Select NP_066015.2:p.Leu1801=
ENST00000282041.11:c.5403T>C MANE Select ENSP00000282041.4:p.Leu1801=
NM_020964.2:c.5403T>C NP_066015.2:p.Leu1801=
ENST00000282041.9:c.5403T>C ENSP00000282041.4:p.Leu1801=
ENST00000585906.5:n.2182T>C
ENST00000586655.2:n.3664T>C
ENST00000587884.1:c.*1143T>C ENSP00000466990.1:n.*1143T>C
ENST00000587884.2:c.5529T>C ENSP00000466990.2:n.5529T>C
ENST00000587973.2:n.1268T>C
ENST00000590884.5:c.1972T>C ENSP00000466403.1:p.Ter658Arg
ENST00000590884.6:c.5347T>C ENSP00000466403.2:p.Ter1783Arg
ENST00000592272.5:c.2028T>C ENSP00000467464.1:p.Leu676=
ENST00000592272.6:c.5403T>C ENSP00000467464.2:p.Leu1801=
ENST00000696481.1:n.2035T>C
ENST00000696482.1:c.5143T>C ENSP00000512656.1:n.5143T>C
ENST00000696483.1:c.5403T>C ENSP00000512657.1:p.Leu1801=
ENST00000696484.1:c.5403T>C ENSP00000512658.1:p.Leu1801=
ENST00000696485.1:c.5347T>C ENSP00000512659.1:p.Ter1783Arg
ENST00000696489.1:c.5403T>C ENSP00000512660.1:p.Leu1801=
ENST00000696490.1:c.5403T>C ENSP00000512661.1:p.Leu1801=
XM_011526120.1:c.5430T>C XP_011524422.1:p.Leu1810=
XM_011526121.1:c.5430T>C XP_011524423.1:p.Leu1810=
XM_011526122.1:c.5403T>C XP_011524424.1:p.Leu1801=
XM_011526123.1:c.5430T>C XP_011524425.1:p.Leu1810=
XM_011526124.1:c.5430T>C XP_011524426.1:p.Leu1810=
XM_011526125.1:c.5289T>C XP_011524427.1:p.Leu1763=
XM_011526126.1:c.4365T>C XP_011524428.1:p.Leu1455=
XM_011526127.1:c.5430T>C XP_011524429.1:p.Leu1810=
XM_011526128.1:c.5374T>C XP_011524430.1:p.Ter1792Arg
XM_017025889.1:c.5403T>C XP_016881378.1:p.Leu1801=
XM_017025890.2:c.5403T>C XP_016881379.1:p.Leu1801=
XM_017025891.1:c.5262T>C XP_016881380.1:p.Leu1754=
XM_017025892.1:c.4338T>C XP_016881381.1:p.Leu1446=
XM_017025893.1:c.2028T>C XP_016881382.1:p.Leu676=
XR_001753256.1:n.5485T>C
XR_001753257.1:n.5429T>C
XR_935244.1:n.5503T>C