Canonical Allele Identifier: CA2641628025

Gene: EPG5

Linked Data

• ClinVar Variation Id: 2764606
• ClinVar RCV Id: RCV003540402
• gnomAD v4: 18-45899384-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45899384G>A , CM000680.2:g.45899384G>A	GRCh38
NC_000018.9:g.43479349G>A , CM000680.1:g.43479349G>A	GRCh37
NC_000018.8:g.41733347G>A	NCBI36
NG_042838.1:g.72956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.3126+20C>T
ENST00000587884.2:c.4935+20C>T	ENSP00000466990.2:n.4935+20C>T
ENST00000590884.6:c.4809+20C>T	ENSP00000466403.2:n.4809+20C>T
ENST00000592272.6:c.4809+20C>T	ENSP00000467464.2:n.4809+20C>T
ENST00000696482.1:c.4549+20C>T	ENSP00000512656.1:n.4549+20C>T
ENST00000696483.1:c.4809+20C>T	ENSP00000512657.1:n.4809+20C>T
ENST00000696484.1:c.4809+20C>T	ENSP00000512658.1:n.4809+20C>T
ENST00000696485.1:c.4809+20C>T	ENSP00000512659.1:n.4809+20C>T
ENST00000696489.1:c.4809+20C>T	ENSP00000512660.1:n.4809+20C>T
ENST00000696490.1:c.4809+20C>T	ENSP00000512661.1:n.4809+20C>T
ENST00000696785.1:n.3329C>T
ENST00000282041.11:c.4809+20C>T MANE Select	ENSP00000282041.4:n.4809+20C>T
ENST00000282041.9:c.4809+20C>T	ENSP00000282041.4:n.4809+20C>T
ENST00000585906.5:n.1588+20C>T
ENST00000587884.1:c.*549+20C>T	ENSP00000466990.1:n.*549+20C>T
ENST00000590884.5:c.1434+20C>T	ENSP00000466403.1:n.1434+20C>T
ENST00000592272.5:c.1434+20C>T	ENSP00000467464.1:n.1434+20C>T
NM_020964.2:c.4809+20C>T	NP_066015.2:n.4809+20C>T
XM_011526120.1:c.4836+20C>T	XP_011524422.1:n.4836+20C>T
XM_011526121.1:c.4836+20C>T	XP_011524423.1:n.4836+20C>T
XM_011526122.1:c.4809+20C>T	XP_011524424.1:n.4809+20C>T
XM_011526123.1:c.4836+20C>T	XP_011524425.1:n.4836+20C>T
XM_011526124.1:c.4836+20C>T	XP_011524426.1:n.4836+20C>T
XM_011526125.1:c.4695+20C>T	XP_011524427.1:n.4695+20C>T
XM_011526126.1:c.3771+20C>T	XP_011524428.1:n.3771+20C>T
XM_011526127.1:c.4836+20C>T	XP_011524429.1:n.4836+20C>T
XM_011526128.1:c.4836+20C>T	XP_011524430.1:n.4836+20C>T
XR_935244.1:n.4909+20C>T
NM_020964.3:c.4809+20C>T MANE Select	NP_066015.2:n.4809+20C>T
XM_017025889.1:c.4809+20C>T	XP_016881378.1:n.4809+20C>T
XM_017025890.2:c.4809+20C>T	XP_016881379.1:n.4809+20C>T
XM_017025891.1:c.4668+20C>T	XP_016881380.1:n.4668+20C>T
XM_017025892.1:c.3744+20C>T	XP_016881381.1:n.3744+20C>T
XM_017025893.1:c.1434+20C>T	XP_016881382.1:n.1434+20C>T
XR_001753256.1:n.4891+20C>T
XR_001753257.1:n.4891+20C>T