Canonical Allele Identifier: CA402344583

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882287C>G , CM000680.2:g.45882287C>G	GRCh38
NC_000018.9:g.43462252C>G , CM000680.1:g.43462252C>G	GRCh37
NC_000018.8:g.41716250C>G	NCBI36
NG_042838.1:g.90053G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5505G>C MANE Select	NP_066015.2:p.Arg1835Ser
ENST00000282041.11:c.5505G>C MANE Select	ENSP00000282041.4:p.Arg1835Ser
NM_020964.2:c.5505G>C	NP_066015.2:p.Arg1835Ser
ENST00000282041.9:c.5505G>C	ENSP00000282041.4:p.Arg1835Ser
ENST00000585906.5:n.2284G>C
ENST00000586655.2:n.3766G>C
ENST00000587884.1:c.*1245G>C	ENSP00000466990.1:n.*1245G>C
ENST00000587884.2:c.5631G>C	ENSP00000466990.2:n.5631G>C
ENST00000587973.2:n.1370G>C
ENST00000590884.5:c.*100G>C	ENSP00000466403.1:n.*100G>C
ENST00000590884.6:c.5449G>C	ENSP00000466403.2:n.5449G>C
ENST00000592272.5:c.2130G>C	ENSP00000467464.1:p.Arg710Ser
ENST00000592272.6:c.5505G>C	ENSP00000467464.2:p.Arg1835Ser
ENST00000696481.1:n.2137G>C
ENST00000696482.1:c.5245G>C	ENSP00000512656.1:n.5245G>C
ENST00000696483.1:c.5505G>C	ENSP00000512657.1:p.Arg1835Ser
ENST00000696484.1:c.5505G>C	ENSP00000512658.1:p.Arg1835Ser
ENST00000696485.1:c.*100G>C	ENSP00000512659.1:n.*100G>C
ENST00000696489.1:c.5505G>C	ENSP00000512660.1:p.Arg1835Ser
ENST00000696490.1:c.5505G>C	ENSP00000512661.1:p.Arg1835Ser
XM_011526120.1:c.5532G>C	XP_011524422.1:p.Arg1844Ser
XM_011526121.1:c.5532G>C	XP_011524423.1:p.Arg1844Ser
XM_011526122.1:c.5505G>C	XP_011524424.1:p.Arg1835Ser
XM_011526123.1:c.5532G>C	XP_011524425.1:p.Arg1844Ser
XM_011526124.1:c.5532G>C	XP_011524426.1:p.Arg1844Ser
XM_011526125.1:c.5391G>C	XP_011524427.1:p.Arg1797Ser
XM_011526126.1:c.4467G>C	XP_011524428.1:p.Arg1489Ser
XM_011526127.1:c.5532G>C	XP_011524429.1:p.Arg1844Ser
XM_011526128.1:c.*100G>C	XP_011524430.1:n.*100G>C
XM_017025889.1:c.5505G>C	XP_016881378.1:p.Arg1835Ser
XM_017025890.2:c.5505G>C	XP_016881379.1:p.Arg1835Ser
XM_017025891.1:c.5364G>C	XP_016881380.1:p.Arg1788Ser
XM_017025892.1:c.4440G>C	XP_016881381.1:p.Arg1480Ser
XM_017025893.1:c.2130G>C	XP_016881382.1:p.Arg710Ser
XR_001753256.1:n.5587G>C
XR_001753257.1:n.5531G>C
XR_935244.1:n.5605G>C