Canonical Allele Identifier: CA402344570
Community Standard Title: NM_020964.3(EPG5):c.5512A>C (p.Met1838Leu)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882280T>G , CM000680.2:g.45882280T>G GRCh38
NC_000018.9:g.43462245T>G , CM000680.1:g.43462245T>G GRCh37
NC_000018.8:g.41716243T>G NCBI36
NG_042838.1:g.90060A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5512A>C MANE Select NP_066015.2:p.Met1838Leu
ENST00000282041.11:c.5512A>C MANE Select ENSP00000282041.4:p.Met1838Leu
NM_020964.2:c.5512A>C NP_066015.2:p.Met1838Leu
ENST00000282041.9:c.5512A>C ENSP00000282041.4:p.Met1838Leu
ENST00000585906.5:n.2291A>C
ENST00000586655.2:n.3773A>C
ENST00000587884.1:c.*1252A>C ENSP00000466990.1:n.*1252A>C
ENST00000587884.2:c.5638A>C ENSP00000466990.2:n.5638A>C
ENST00000587973.2:n.1377A>C
ENST00000590884.5:c.*107A>C ENSP00000466403.1:n.*107A>C
ENST00000590884.6:c.5456A>C ENSP00000466403.2:n.5456A>C
ENST00000592272.5:c.2137A>C ENSP00000467464.1:p.Met713Leu
ENST00000592272.6:c.5512A>C ENSP00000467464.2:p.Met1838Leu
ENST00000696481.1:n.2144A>C
ENST00000696482.1:c.5252A>C ENSP00000512656.1:n.5252A>C
ENST00000696483.1:c.5512A>C ENSP00000512657.1:p.Met1838Leu
ENST00000696484.1:c.5512A>C ENSP00000512658.1:p.Met1838Leu
ENST00000696485.1:c.*107A>C ENSP00000512659.1:n.*107A>C
ENST00000696489.1:c.5512A>C ENSP00000512660.1:p.Met1838Leu
ENST00000696490.1:c.5512A>C ENSP00000512661.1:p.Met1838Leu
XM_011526120.1:c.5539A>C XP_011524422.1:p.Met1847Leu
XM_011526121.1:c.5539A>C XP_011524423.1:p.Met1847Leu
XM_011526122.1:c.5512A>C XP_011524424.1:p.Met1838Leu
XM_011526123.1:c.5539A>C XP_011524425.1:p.Met1847Leu
XM_011526124.1:c.5539A>C XP_011524426.1:p.Met1847Leu
XM_011526125.1:c.5398A>C XP_011524427.1:p.Met1800Leu
XM_011526126.1:c.4474A>C XP_011524428.1:p.Met1492Leu
XM_011526127.1:c.5539A>C XP_011524429.1:p.Met1847Leu
XM_017025889.1:c.5512A>C XP_016881378.1:p.Met1838Leu
XM_017025890.2:c.5512A>C XP_016881379.1:p.Met1838Leu
XM_017025891.1:c.5371A>C XP_016881380.1:p.Met1791Leu
XM_017025892.1:c.4447A>C XP_016881381.1:p.Met1483Leu
XM_017025893.1:c.2137A>C XP_016881382.1:p.Met713Leu
XR_001753256.1:n.5594A>C
XR_001753257.1:n.5538A>C
XR_935244.1:n.5612A>C