Canonical Allele Identifier: CA8948594

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882388C>G , CM000680.2:g.45882388C>G	GRCh38
NC_000018.9:g.43462353C>G , CM000680.1:g.43462353C>G	GRCh37
NC_000018.8:g.41716351C>G	NCBI36
NG_042838.1:g.89952G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5404G>C MANE Select	NP_066015.2:p.Glu1802Gln
ENST00000282041.11:c.5404G>C MANE Select	ENSP00000282041.4:p.Glu1802Gln
NM_020964.2:c.5404G>C	NP_066015.2:p.Glu1802Gln
ENST00000282041.9:c.5404G>C	ENSP00000282041.4:p.Glu1802Gln
ENST00000585906.5:n.2183G>C
ENST00000586655.2:n.3665G>C
ENST00000587884.1:c.*1144G>C	ENSP00000466990.1:n.*1144G>C
ENST00000587884.2:c.5530G>C	ENSP00000466990.2:n.5530G>C
ENST00000587973.2:n.1269G>C
ENST00000590884.5:c.1973G>C	ENSP00000466403.1:p.Ter658Ser
ENST00000590884.6:c.5348G>C	ENSP00000466403.2:p.Ter1783Ser
ENST00000592272.5:c.2029G>C	ENSP00000467464.1:p.Glu677Gln
ENST00000592272.6:c.5404G>C	ENSP00000467464.2:p.Glu1802Gln
ENST00000696481.1:n.2036G>C
ENST00000696482.1:c.5144G>C	ENSP00000512656.1:n.5144G>C
ENST00000696483.1:c.5404G>C	ENSP00000512657.1:p.Glu1802Gln
ENST00000696484.1:c.5404G>C	ENSP00000512658.1:p.Glu1802Gln
ENST00000696485.1:c.5348G>C	ENSP00000512659.1:p.Ter1783Ser
ENST00000696489.1:c.5404G>C	ENSP00000512660.1:p.Glu1802Gln
ENST00000696490.1:c.5404G>C	ENSP00000512661.1:p.Glu1802Gln
XM_011526120.1:c.5431G>C	XP_011524422.1:p.Glu1811Gln
XM_011526121.1:c.5431G>C	XP_011524423.1:p.Glu1811Gln
XM_011526122.1:c.5404G>C	XP_011524424.1:p.Glu1802Gln
XM_011526123.1:c.5431G>C	XP_011524425.1:p.Glu1811Gln
XM_011526124.1:c.5431G>C	XP_011524426.1:p.Glu1811Gln
XM_011526125.1:c.5290G>C	XP_011524427.1:p.Glu1764Gln
XM_011526126.1:c.4366G>C	XP_011524428.1:p.Glu1456Gln
XM_011526127.1:c.5431G>C	XP_011524429.1:p.Glu1811Gln
XM_011526128.1:c.5375G>C	XP_011524430.1:p.Ter1792Ser
XM_017025889.1:c.5404G>C	XP_016881378.1:p.Glu1802Gln
XM_017025890.2:c.5404G>C	XP_016881379.1:p.Glu1802Gln
XM_017025891.1:c.5263G>C	XP_016881380.1:p.Glu1755Gln
XM_017025892.1:c.4339G>C	XP_016881381.1:p.Glu1447Gln
XM_017025893.1:c.2029G>C	XP_016881382.1:p.Glu677Gln
XR_001753256.1:n.5486G>C
XR_001753257.1:n.5430G>C
XR_935244.1:n.5504G>C