Canonical Allele Identifier: CA402344831

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882394C>G , CM000680.2:g.45882394C>G	GRCh38
NC_000018.9:g.43462359C>G , CM000680.1:g.43462359C>G	GRCh37
NC_000018.8:g.41716357C>G	NCBI36
NG_042838.1:g.89946G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5398G>C MANE Select	NP_066015.2:p.Gly1800Arg
ENST00000282041.11:c.5398G>C MANE Select	ENSP00000282041.4:p.Gly1800Arg
NM_020964.2:c.5398G>C	NP_066015.2:p.Gly1800Arg
ENST00000282041.9:c.5398G>C	ENSP00000282041.4:p.Gly1800Arg
ENST00000585906.5:n.2177G>C
ENST00000586655.2:n.3659G>C
ENST00000587884.1:c.*1138G>C	ENSP00000466990.1:n.*1138G>C
ENST00000587884.2:c.5524G>C	ENSP00000466990.2:n.5524G>C
ENST00000587973.2:n.1263G>C
ENST00000590884.5:c.1967G>C	ENSP00000466403.1:p.Gly656Ala
ENST00000590884.6:c.5342G>C	ENSP00000466403.2:p.Gly1781Ala
ENST00000592272.5:c.2023G>C	ENSP00000467464.1:p.Gly675Arg
ENST00000592272.6:c.5398G>C	ENSP00000467464.2:p.Gly1800Arg
ENST00000696481.1:n.2030G>C
ENST00000696482.1:c.5138G>C	ENSP00000512656.1:n.5138G>C
ENST00000696483.1:c.5398G>C	ENSP00000512657.1:p.Gly1800Arg
ENST00000696484.1:c.5398G>C	ENSP00000512658.1:p.Gly1800Arg
ENST00000696485.1:c.5342G>C	ENSP00000512659.1:p.Gly1781Ala
ENST00000696489.1:c.5398G>C	ENSP00000512660.1:p.Gly1800Arg
ENST00000696490.1:c.5398G>C	ENSP00000512661.1:p.Gly1800Arg
XM_011526120.1:c.5425G>C	XP_011524422.1:p.Gly1809Arg
XM_011526121.1:c.5425G>C	XP_011524423.1:p.Gly1809Arg
XM_011526122.1:c.5398G>C	XP_011524424.1:p.Gly1800Arg
XM_011526123.1:c.5425G>C	XP_011524425.1:p.Gly1809Arg
XM_011526124.1:c.5425G>C	XP_011524426.1:p.Gly1809Arg
XM_011526125.1:c.5284G>C	XP_011524427.1:p.Gly1762Arg
XM_011526126.1:c.4360G>C	XP_011524428.1:p.Gly1454Arg
XM_011526127.1:c.5425G>C	XP_011524429.1:p.Gly1809Arg
XM_011526128.1:c.5369G>C	XP_011524430.1:p.Gly1790Ala
XM_017025889.1:c.5398G>C	XP_016881378.1:p.Gly1800Arg
XM_017025890.2:c.5398G>C	XP_016881379.1:p.Gly1800Arg
XM_017025891.1:c.5257G>C	XP_016881380.1:p.Gly1753Arg
XM_017025892.1:c.4333G>C	XP_016881381.1:p.Gly1445Arg
XM_017025893.1:c.2023G>C	XP_016881382.1:p.Gly675Arg
XR_001753256.1:n.5480G>C
XR_001753257.1:n.5424G>C
XR_935244.1:n.5498G>C