Canonical Allele Identifier: CA402340007

Gene: EPG5

Linked Data

• ClinVar Variation Id: 2155261
• ClinVar RCV Id: RCV003072247
• dbSNP Id: rs1445842010
• MyVariant Identifiers: chr18:g.43490561C>G (hg19) ; chr18:g.45910596C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910596C>G , CM000680.2:g.45910596C>G	GRCh38
NC_000018.9:g.43490561C>G , CM000680.1:g.43490561C>G	GRCh37
NC_000018.8:g.41744559C>G	NCBI36
NG_042838.1:g.61744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2314G>C
ENST00000587884.2:c.4130G>C	ENSP00000466990.2:p.Ser1377Thr
ENST00000590884.6:c.4130G>C	ENSP00000466403.2:p.Ser1377Thr
ENST00000592272.6:c.4130G>C	ENSP00000467464.2:p.Ser1377Thr
ENST00000696482.1:c.3870G>C	ENSP00000512656.1:n.3870G>C
ENST00000696483.1:c.4130G>C	ENSP00000512657.1:p.Ser1377Thr
ENST00000696484.1:c.4130G>C	ENSP00000512658.1:p.Ser1377Thr
ENST00000696485.1:c.4130G>C	ENSP00000512659.1:p.Ser1377Thr
ENST00000696489.1:c.4130G>C	ENSP00000512660.1:p.Ser1377Thr
ENST00000696490.1:c.4130G>C	ENSP00000512661.1:p.Ser1377Thr
ENST00000282041.11:c.4130G>C MANE Select	ENSP00000282041.4:p.Ser1377Thr
ENST00000282041.9:c.4130G>C	ENSP00000282041.4:p.Ser1377Thr
ENST00000585906.5:n.909G>C
ENST00000587884.1:c.755G>C	ENSP00000466990.1:p.Ser252Thr
ENST00000587974.1:n.4165G>C
ENST00000590884.5:c.755G>C	ENSP00000466403.1:p.Ser252Thr
ENST00000592272.5:c.755G>C	ENSP00000467464.1:p.Ser252Thr
NM_020964.2:c.4130G>C	NP_066015.2:p.Ser1377Thr
XM_011526120.1:c.4157G>C	XP_011524422.1:p.Ser1386Thr
XM_011526121.1:c.4157G>C	XP_011524423.1:p.Ser1386Thr
XM_011526122.1:c.4130G>C	XP_011524424.1:p.Ser1377Thr
XM_011526123.1:c.4157G>C	XP_011524425.1:p.Ser1386Thr
XM_011526124.1:c.4157G>C	XP_011524426.1:p.Ser1386Thr
XM_011526125.1:c.4016G>C	XP_011524427.1:p.Ser1339Thr
XM_011526126.1:c.3092G>C	XP_011524428.1:p.Ser1031Thr
XM_011526127.1:c.4157G>C	XP_011524429.1:p.Ser1386Thr
XM_011526128.1:c.4157G>C	XP_011524430.1:p.Ser1386Thr
XR_935244.1:n.4230G>C
NM_020964.3:c.4130G>C MANE Select	NP_066015.2:p.Ser1377Thr
XM_017025889.1:c.4130G>C	XP_016881378.1:p.Ser1377Thr
XM_017025890.2:c.4130G>C	XP_016881379.1:p.Ser1377Thr
XM_017025891.1:c.3989G>C	XP_016881380.1:p.Ser1330Thr
XM_017025892.1:c.3065G>C	XP_016881381.1:p.Ser1022Thr
XM_017025893.1:c.755G>C	XP_016881382.1:p.Ser252Thr
XR_001753256.1:n.4212G>C
XR_001753257.1:n.4212G>C