Canonical Allele Identifier: CA402344566
Community Standard Title: NM_020964.3(EPG5):c.5513T>C (p.Met1838Thr)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882279A>G , CM000680.2:g.45882279A>G GRCh38
NC_000018.9:g.43462244A>G , CM000680.1:g.43462244A>G GRCh37
NC_000018.8:g.41716242A>G NCBI36
NG_042838.1:g.90061T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5513T>C MANE Select NP_066015.2:p.Met1838Thr
ENST00000282041.11:c.5513T>C MANE Select ENSP00000282041.4:p.Met1838Thr
NM_020964.2:c.5513T>C NP_066015.2:p.Met1838Thr
ENST00000282041.9:c.5513T>C ENSP00000282041.4:p.Met1838Thr
ENST00000585906.5:n.2292T>C
ENST00000586655.2:n.3774T>C
ENST00000587884.1:c.*1253T>C ENSP00000466990.1:n.*1253T>C
ENST00000587884.2:c.5639T>C ENSP00000466990.2:n.5639T>C
ENST00000587973.2:n.1378T>C
ENST00000590884.5:c.*108T>C ENSP00000466403.1:n.*108T>C
ENST00000590884.6:c.5457T>C ENSP00000466403.2:n.5457T>C
ENST00000592272.5:c.2138T>C ENSP00000467464.1:p.Met713Thr
ENST00000592272.6:c.5513T>C ENSP00000467464.2:p.Met1838Thr
ENST00000696481.1:n.2145T>C
ENST00000696482.1:c.5253T>C ENSP00000512656.1:n.5253T>C
ENST00000696483.1:c.5513T>C ENSP00000512657.1:p.Met1838Thr
ENST00000696484.1:c.5513T>C ENSP00000512658.1:p.Met1838Thr
ENST00000696485.1:c.*108T>C ENSP00000512659.1:n.*108T>C
ENST00000696489.1:c.5513T>C ENSP00000512660.1:p.Met1838Thr
ENST00000696490.1:c.5513T>C ENSP00000512661.1:p.Met1838Thr
XM_011526120.1:c.5540T>C XP_011524422.1:p.Met1847Thr
XM_011526121.1:c.5540T>C XP_011524423.1:p.Met1847Thr
XM_011526122.1:c.5513T>C XP_011524424.1:p.Met1838Thr
XM_011526123.1:c.5540T>C XP_011524425.1:p.Met1847Thr
XM_011526124.1:c.5540T>C XP_011524426.1:p.Met1847Thr
XM_011526125.1:c.5399T>C XP_011524427.1:p.Met1800Thr
XM_011526126.1:c.4475T>C XP_011524428.1:p.Met1492Thr
XM_011526127.1:c.5540T>C XP_011524429.1:p.Met1847Thr
XM_017025889.1:c.5513T>C XP_016881378.1:p.Met1838Thr
XM_017025890.2:c.5513T>C XP_016881379.1:p.Met1838Thr
XM_017025891.1:c.5372T>C XP_016881380.1:p.Met1791Thr
XM_017025892.1:c.4448T>C XP_016881381.1:p.Met1483Thr
XM_017025893.1:c.2138T>C XP_016881382.1:p.Met713Thr
XR_001753256.1:n.5595T>C
XR_001753257.1:n.5539T>C
XR_935244.1:n.5613T>C