Canonical Allele Identifier: CA503793693

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910586-C-A
• MyVariant Identifiers: chr18:g.43490551C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910586C>A , CM000680.2:g.45910586C>A	GRCh38
NC_000018.9:g.43490551C>A , CM000680.1:g.43490551C>A	GRCh37
NC_000018.8:g.41744549C>A	NCBI36
NG_042838.1:g.61754G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2324G>T
ENST00000587884.2:c.4140G>T	ENSP00000466990.2:p.Leu1380=
ENST00000590884.6:c.4140G>T	ENSP00000466403.2:p.Leu1380=
ENST00000592272.6:c.4140G>T	ENSP00000467464.2:p.Leu1380=
ENST00000696482.1:c.3880G>T	ENSP00000512656.1:n.3880G>T
ENST00000696483.1:c.4140G>T	ENSP00000512657.1:p.Leu1380=
ENST00000696484.1:c.4140G>T	ENSP00000512658.1:p.Leu1380=
ENST00000696485.1:c.4140G>T	ENSP00000512659.1:p.Leu1380=
ENST00000696489.1:c.4140G>T	ENSP00000512660.1:p.Leu1380=
ENST00000696490.1:c.4140G>T	ENSP00000512661.1:p.Leu1380=
ENST00000282041.11:c.4140G>T MANE Select	ENSP00000282041.4:p.Leu1380=
ENST00000282041.9:c.4140G>T	ENSP00000282041.4:p.Leu1380=
ENST00000585906.5:n.919G>T
ENST00000587884.1:c.765G>T	ENSP00000466990.1:p.Leu255=
ENST00000587974.1:n.4175G>T
ENST00000590884.5:c.765G>T	ENSP00000466403.1:p.Leu255=
ENST00000592272.5:c.765G>T	ENSP00000467464.1:p.Leu255=
NM_020964.2:c.4140G>T	NP_066015.2:p.Leu1380=
XM_011526120.1:c.4167G>T	XP_011524422.1:p.Leu1389=
XM_011526121.1:c.4167G>T	XP_011524423.1:p.Leu1389=
XM_011526122.1:c.4140G>T	XP_011524424.1:p.Leu1380=
XM_011526123.1:c.4167G>T	XP_011524425.1:p.Leu1389=
XM_011526124.1:c.4167G>T	XP_011524426.1:p.Leu1389=
XM_011526125.1:c.4026G>T	XP_011524427.1:p.Leu1342=
XM_011526126.1:c.3102G>T	XP_011524428.1:p.Leu1034=
XM_011526127.1:c.4167G>T	XP_011524429.1:p.Leu1389=
XM_011526128.1:c.4167G>T	XP_011524430.1:p.Leu1389=
XR_935244.1:n.4240G>T
NM_020964.3:c.4140G>T MANE Select	NP_066015.2:p.Leu1380=
XM_017025889.1:c.4140G>T	XP_016881378.1:p.Leu1380=
XM_017025890.2:c.4140G>T	XP_016881379.1:p.Leu1380=
XM_017025891.1:c.3999G>T	XP_016881380.1:p.Leu1333=
XM_017025892.1:c.3075G>T	XP_016881381.1:p.Leu1025=
XM_017025893.1:c.765G>T	XP_016881382.1:p.Leu255=
XR_001753256.1:n.4222G>T
XR_001753257.1:n.4222G>T