Canonical Allele Identifier: CA503793672

Gene: EPG5

Linked Data

• ClinVar Variation Id: 3014934
• ClinVar RCV Id: RCV003878557
• gnomAD v4: 18-45910565-G-C
• MyVariant Identifiers: chr18:g.43490530G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910565G>C , CM000680.2:g.45910565G>C	GRCh38
NC_000018.9:g.43490530G>C , CM000680.1:g.43490530G>C	GRCh37
NC_000018.8:g.41744528G>C	NCBI36
NG_042838.1:g.61775C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2345C>G
ENST00000587884.2:c.4161C>G	ENSP00000466990.2:p.Thr1387=
ENST00000590884.6:c.4161C>G	ENSP00000466403.2:p.Thr1387=
ENST00000592272.6:c.4161C>G	ENSP00000467464.2:p.Thr1387=
ENST00000696482.1:c.3901C>G	ENSP00000512656.1:n.3901C>G
ENST00000696483.1:c.4161C>G	ENSP00000512657.1:p.Thr1387=
ENST00000696484.1:c.4161C>G	ENSP00000512658.1:p.Thr1387=
ENST00000696485.1:c.4161C>G	ENSP00000512659.1:p.Thr1387=
ENST00000696489.1:c.4161C>G	ENSP00000512660.1:p.Thr1387=
ENST00000696490.1:c.4161C>G	ENSP00000512661.1:p.Thr1387=
ENST00000282041.11:c.4161C>G MANE Select	ENSP00000282041.4:p.Thr1387=
ENST00000282041.9:c.4161C>G	ENSP00000282041.4:p.Thr1387=
ENST00000585906.5:n.940C>G
ENST00000587884.1:c.786C>G	ENSP00000466990.1:p.Thr262=
ENST00000587974.1:n.4196C>G
ENST00000590884.5:c.786C>G	ENSP00000466403.1:p.Thr262=
ENST00000592272.5:c.786C>G	ENSP00000467464.1:p.Thr262=
NM_020964.2:c.4161C>G	NP_066015.2:p.Thr1387=
XM_011526120.1:c.4188C>G	XP_011524422.1:p.Thr1396=
XM_011526121.1:c.4188C>G	XP_011524423.1:p.Thr1396=
XM_011526122.1:c.4161C>G	XP_011524424.1:p.Thr1387=
XM_011526123.1:c.4188C>G	XP_011524425.1:p.Thr1396=
XM_011526124.1:c.4188C>G	XP_011524426.1:p.Thr1396=
XM_011526125.1:c.4047C>G	XP_011524427.1:p.Thr1349=
XM_011526126.1:c.3123C>G	XP_011524428.1:p.Thr1041=
XM_011526127.1:c.4188C>G	XP_011524429.1:p.Thr1396=
XM_011526128.1:c.4188C>G	XP_011524430.1:p.Thr1396=
XR_935244.1:n.4261C>G
NM_020964.3:c.4161C>G MANE Select	NP_066015.2:p.Thr1387=
XM_017025889.1:c.4161C>G	XP_016881378.1:p.Thr1387=
XM_017025890.2:c.4161C>G	XP_016881379.1:p.Thr1387=
XM_017025891.1:c.4020C>G	XP_016881380.1:p.Thr1340=
XM_017025892.1:c.3096C>G	XP_016881381.1:p.Thr1032=
XM_017025893.1:c.786C>G	XP_016881382.1:p.Thr262=
XR_001753256.1:n.4243C>G
XR_001753257.1:n.4243C>G