Canonical Allele Identifier: CA503795411
Community Standard Title: NM_020964.3(EPG5):c.6945C>T (p.Ser2315=)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45860168G>A , CM000680.2:g.45860168G>A GRCh38
NC_000018.9:g.43440133G>A , CM000680.1:g.43440133G>A GRCh37
NC_000018.8:g.41694131G>A NCBI36
NG_042838.1:g.112172C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.6945C>T MANE Select NP_066015.2:p.Ser2315=
ENST00000282041.11:c.6945C>T MANE Select ENSP00000282041.4:p.Ser2315=
NM_020964.2:c.6945C>T NP_066015.2:p.Ser2315=
ENST00000282041.9:c.6945C>T ENSP00000282041.4:p.Ser2315=
ENST00000585906.5:n.3724C>T
ENST00000586655.2:n.5206C>T
ENST00000587884.1:c.*2685C>T ENSP00000466990.1:n.*2685C>T
ENST00000587884.2:c.7071C>T ENSP00000466990.2:n.7071C>T
ENST00000587973.2:n.2810C>T
ENST00000590854.5:c.722C>T
ENST00000590884.5:c.*1257C>T ENSP00000466403.1:n.*1257C>T
ENST00000590884.6:c.6606C>T ENSP00000466403.2:n.6606C>T
ENST00000592272.5:c.*892C>T ENSP00000467464.1:n.*892C>T
ENST00000592272.6:c.6838C>T ENSP00000467464.2:n.6838C>T
ENST00000696481.1:n.3577C>T
ENST00000696482.1:c.6685C>T ENSP00000512656.1:n.6685C>T
ENST00000696483.1:c.6945C>T ENSP00000512657.1:p.Ser2315=
ENST00000696484.1:c.6945C>T ENSP00000512658.1:p.Ser2315=
ENST00000696485.1:c.*1537C>T ENSP00000512659.1:n.*1537C>T
ENST00000696489.1:c.6942C>T ENSP00000512660.1:p.Ser2314=
ENST00000696490.1:c.6945C>T ENSP00000512661.1:p.Ser2315=
XM_011526120.1:c.6972C>T XP_011524422.1:p.Ser2324=
XM_011526121.1:c.6969C>T XP_011524423.1:p.Ser2323=
XM_011526122.1:c.6945C>T XP_011524424.1:p.Ser2315=
XM_011526123.1:c.6972C>T XP_011524425.1:p.Ser2324=
XM_011526124.1:c.6972C>T XP_011524426.1:p.Ser2324=
XM_011526125.1:c.6831C>T XP_011524427.1:p.Ser2277=
XM_011526126.1:c.5907C>T XP_011524428.1:p.Ser1969=
XM_017025889.1:c.6942C>T XP_016881378.1:p.Ser2314=
XM_017025890.2:c.6945C>T XP_016881379.1:p.Ser2315=
XM_017025891.1:c.6804C>T XP_016881380.1:p.Ser2268=
XM_017025892.1:c.5880C>T XP_016881381.1:p.Ser1960=
XM_017025893.1:c.3570C>T XP_016881382.1:p.Ser1190=
XR_001753256.1:n.6920C>T
XR_001753257.1:n.6968C>T
XR_935244.1:n.6938C>T