Canonical Allele Identifier: CA402335344

Gene: EPG5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45852580C>T , CM000680.2:g.45852580C>T	GRCh38
NC_000018.9:g.43432545C>T , CM000680.1:g.43432545C>T	GRCh37
NC_000018.8:g.41686543C>T	NCBI36
NG_042838.1:g.119760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.5888G>A
ENST00000587884.2:c.7753G>A	ENSP00000466990.2:n.7753G>A
ENST00000587973.2:n.3492G>A
ENST00000590884.6:c.7288G>A	ENSP00000466403.2:n.7288G>A
ENST00000592272.6:c.7520G>A	ENSP00000467464.2:n.7520G>A
ENST00000696481.1:n.4074+5273G>A
ENST00000696482.1:c.7252G>A	ENSP00000512656.1:n.7252G>A
ENST00000696483.1:c.7557+2993G>A	ENSP00000512657.1:n.7557+2993G>A
ENST00000696484.1:c.7442+5273G>A	ENSP00000512658.1:n.7442+5273G>A
ENST00000696485.1:c.*2219G>A	ENSP00000512659.1:n.*2219G>A
ENST00000696489.1:c.7624G>A	ENSP00000512660.1:p.Ala2542Thr
ENST00000696490.1:c.*63G>A	ENSP00000512661.1:n.*63G>A
ENST00000282041.11:c.7627G>A MANE Select	ENSP00000282041.4:p.Ala2543Thr
ENST00000282041.9:c.7627G>A	ENSP00000282041.4:p.Ala2543Thr
ENST00000590854.5:c.1404G>A
NM_020964.2:c.7627G>A	NP_066015.2:p.Ala2543Thr
XM_011526123.1:c.7654G>A	XP_011524425.1:p.Ala2552Thr
XM_011526124.1:c.7584+2993G>A	XP_011524426.1:n.7584+2993G>A
NM_020964.3:c.7627G>A MANE Select	NP_066015.2:p.Ala2543Thr
XM_017025890.2:c.7557+2993G>A	XP_016881379.1:n.7557+2993G>A
XR_001753256.1:n.7602G>A
XR_001753257.1:n.7650G>A