Canonical Allele Identifier: CA299694358
Community Standard Title: NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter)
Gene: EPG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45860228C>T , CM000680.2:g.45860228C>T GRCh38
NC_000018.9:g.43440193C>T , CM000680.1:g.43440193C>T GRCh37
NC_000018.8:g.41694191C>T NCBI36
NG_042838.1:g.112112G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020964.3:c.6885G>A MANE Select NP_066015.2:p.Trp2295Ter
ENST00000282041.11:c.6885G>A MANE Select ENSP00000282041.4:p.Trp2295Ter
NM_020964.2:c.6885G>A NP_066015.2:p.Trp2295Ter
ENST00000282041.9:c.6885G>A ENSP00000282041.4:p.Trp2295Ter
ENST00000585906.5:n.3664G>A
ENST00000586655.2:n.5146G>A
ENST00000587884.1:c.*2625G>A ENSP00000466990.1:n.*2625G>A
ENST00000587884.2:c.7011G>A ENSP00000466990.2:n.7011G>A
ENST00000587973.2:n.2750G>A
ENST00000590854.5:c.662G>A
ENST00000590884.5:c.*1197G>A ENSP00000466403.1:n.*1197G>A
ENST00000590884.6:c.6546G>A ENSP00000466403.2:n.6546G>A
ENST00000592272.5:c.*832G>A ENSP00000467464.1:n.*832G>A
ENST00000592272.6:c.6778G>A ENSP00000467464.2:n.6778G>A
ENST00000696481.1:n.3517G>A
ENST00000696482.1:c.6625G>A ENSP00000512656.1:n.6625G>A
ENST00000696483.1:c.6885G>A ENSP00000512657.1:p.Trp2295Ter
ENST00000696484.1:c.6885G>A ENSP00000512658.1:p.Trp2295Ter
ENST00000696485.1:c.*1477G>A ENSP00000512659.1:n.*1477G>A
ENST00000696489.1:c.6882G>A ENSP00000512660.1:p.Trp2294Ter
ENST00000696490.1:c.6885G>A ENSP00000512661.1:p.Trp2295Ter
XM_011526120.1:c.6912G>A XP_011524422.1:p.Trp2304Ter
XM_011526121.1:c.6909G>A XP_011524423.1:p.Trp2303Ter
XM_011526122.1:c.6885G>A XP_011524424.1:p.Trp2295Ter
XM_011526123.1:c.6912G>A XP_011524425.1:p.Trp2304Ter
XM_011526124.1:c.6912G>A XP_011524426.1:p.Trp2304Ter
XM_011526125.1:c.6771G>A XP_011524427.1:p.Trp2257Ter
XM_011526126.1:c.5847G>A XP_011524428.1:p.Trp1949Ter
XM_017025889.1:c.6882G>A XP_016881378.1:p.Trp2294Ter
XM_017025890.2:c.6885G>A XP_016881379.1:p.Trp2295Ter
XM_017025891.1:c.6744G>A XP_016881380.1:p.Trp2248Ter
XM_017025892.1:c.5820G>A XP_016881381.1:p.Trp1940Ter
XM_017025893.1:c.3510G>A XP_016881382.1:p.Trp1170Ter
XR_001753256.1:n.6860G>A
XR_001753257.1:n.6908G>A
XR_935244.1:n.6878G>A