Canonical Allele Identifier: CA402344564
Community Standard Title: NM_020964.3(EPG5):c.5514G>T (p.Met1838Ile)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45882278C>A , CM000680.2:g.45882278C>A GRCh38
NC_000018.9:g.43462243C>A , CM000680.1:g.43462243C>A GRCh37
NC_000018.8:g.41716241C>A NCBI36
NG_042838.1:g.90062G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.5514G>T MANE Select NP_066015.2:p.Met1838Ile
ENST00000282041.11:c.5514G>T MANE Select ENSP00000282041.4:p.Met1838Ile
NM_020964.2:c.5514G>T NP_066015.2:p.Met1838Ile
ENST00000282041.9:c.5514G>T ENSP00000282041.4:p.Met1838Ile
ENST00000585906.5:n.2293G>T
ENST00000586655.2:n.3775G>T
ENST00000587884.1:c.*1254G>T ENSP00000466990.1:n.*1254G>T
ENST00000587884.2:c.5640G>T ENSP00000466990.2:n.5640G>T
ENST00000587973.2:n.1379G>T
ENST00000590884.5:c.*109G>T ENSP00000466403.1:n.*109G>T
ENST00000590884.6:c.5458G>T ENSP00000466403.2:n.5458G>T
ENST00000592272.5:c.2139G>T ENSP00000467464.1:p.Met713Ile
ENST00000592272.6:c.5514G>T ENSP00000467464.2:p.Met1838Ile
ENST00000696481.1:n.2146G>T
ENST00000696482.1:c.5254G>T ENSP00000512656.1:n.5254G>T
ENST00000696483.1:c.5514G>T ENSP00000512657.1:p.Met1838Ile
ENST00000696484.1:c.5514G>T ENSP00000512658.1:p.Met1838Ile
ENST00000696485.1:c.*109G>T ENSP00000512659.1:n.*109G>T
ENST00000696489.1:c.5514G>T ENSP00000512660.1:p.Met1838Ile
ENST00000696490.1:c.5514G>T ENSP00000512661.1:p.Met1838Ile
XM_011526120.1:c.5541G>T XP_011524422.1:p.Met1847Ile
XM_011526121.1:c.5541G>T XP_011524423.1:p.Met1847Ile
XM_011526122.1:c.5514G>T XP_011524424.1:p.Met1838Ile
XM_011526123.1:c.5541G>T XP_011524425.1:p.Met1847Ile
XM_011526124.1:c.5541G>T XP_011524426.1:p.Met1847Ile
XM_011526125.1:c.5400G>T XP_011524427.1:p.Met1800Ile
XM_011526126.1:c.4476G>T XP_011524428.1:p.Met1492Ile
XM_011526127.1:c.5541G>T XP_011524429.1:p.Met1847Ile
XM_017025889.1:c.5514G>T XP_016881378.1:p.Met1838Ile
XM_017025890.2:c.5514G>T XP_016881379.1:p.Met1838Ile
XM_017025891.1:c.5373G>T XP_016881380.1:p.Met1791Ile
XM_017025892.1:c.4449G>T XP_016881381.1:p.Met1483Ile
XM_017025893.1:c.2139G>T XP_016881382.1:p.Met713Ile
XR_001753256.1:n.5596G>T
XR_001753257.1:n.5540G>T
XR_935244.1:n.5614G>T