Canonical Allele Identifier: CA402345021

Gene: EPG5

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45882483T>G , CM000680.2:g.45882483T>G	GRCh38
NC_000018.9:g.43462448T>G , CM000680.1:g.43462448T>G	GRCh37
NC_000018.8:g.41716446T>G	NCBI36
NG_042838.1:g.89857A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020964.3:c.5309A>C MANE Select	NP_066015.2:p.Asp1770Ala
ENST00000282041.11:c.5309A>C MANE Select	ENSP00000282041.4:p.Asp1770Ala
NM_020964.2:c.5309A>C	NP_066015.2:p.Asp1770Ala
ENST00000282041.9:c.5309A>C	ENSP00000282041.4:p.Asp1770Ala
ENST00000585906.5:n.2088A>C
ENST00000586655.2:n.3622-52A>C
ENST00000587884.1:c.*1049A>C	ENSP00000466990.1:n.*1049A>C
ENST00000587884.2:c.5435A>C	ENSP00000466990.2:n.5435A>C
ENST00000587973.2:n.1174A>C
ENST00000590884.5:c.1930-52A>C	ENSP00000466403.1:n.1930-52A>C
ENST00000590884.6:c.5305-52A>C	ENSP00000466403.2:n.5305-52A>C
ENST00000592272.5:c.1934A>C	ENSP00000467464.1:p.Asp645Ala
ENST00000592272.6:c.5309A>C	ENSP00000467464.2:p.Asp1770Ala
ENST00000696481.1:n.1941A>C
ENST00000696482.1:c.5049A>C	ENSP00000512656.1:n.5049A>C
ENST00000696483.1:c.5309A>C	ENSP00000512657.1:p.Asp1770Ala
ENST00000696484.1:c.5309A>C	ENSP00000512658.1:p.Asp1770Ala
ENST00000696485.1:c.5305-52A>C	ENSP00000512659.1:n.5305-52A>C
ENST00000696489.1:c.5309A>C	ENSP00000512660.1:p.Asp1770Ala
ENST00000696490.1:c.5309A>C	ENSP00000512661.1:p.Asp1770Ala
XM_011526120.1:c.5336A>C	XP_011524422.1:p.Asp1779Ala
XM_011526121.1:c.5336A>C	XP_011524423.1:p.Asp1779Ala
XM_011526122.1:c.5309A>C	XP_011524424.1:p.Asp1770Ala
XM_011526123.1:c.5336A>C	XP_011524425.1:p.Asp1779Ala
XM_011526124.1:c.5336A>C	XP_011524426.1:p.Asp1779Ala
XM_011526125.1:c.5195A>C	XP_011524427.1:p.Asp1732Ala
XM_011526126.1:c.4271A>C	XP_011524428.1:p.Asp1424Ala
XM_011526127.1:c.5336A>C	XP_011524429.1:p.Asp1779Ala
XM_011526128.1:c.5332-52A>C	XP_011524430.1:n.5332-52A>C
XM_017025889.1:c.5309A>C	XP_016881378.1:p.Asp1770Ala
XM_017025890.2:c.5309A>C	XP_016881379.1:p.Asp1770Ala
XM_017025891.1:c.5168A>C	XP_016881380.1:p.Asp1723Ala
XM_017025892.1:c.4244A>C	XP_016881381.1:p.Asp1415Ala
XM_017025893.1:c.1934A>C	XP_016881382.1:p.Asp645Ala
XR_001753256.1:n.5391A>C
XR_001753257.1:n.5387-52A>C
XR_935244.1:n.5409A>C