Canonical Allele Identifier: CA402340130

Gene: EPG5

Linked Data

• gnomAD v4: 18-45910651-C-T
• MyVariant Identifiers: chr18:g.43490616C>T (hg19) ; chr18:g.45910651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910651C>T , CM000680.2:g.45910651C>T	GRCh38
NC_000018.9:g.43490616C>T , CM000680.1:g.43490616C>T	GRCh37
NC_000018.8:g.41744614C>T	NCBI36
NG_042838.1:g.61689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2259G>A
ENST00000587884.2:c.4075G>A	ENSP00000466990.2:p.Val1359Met
ENST00000590884.6:c.4075G>A	ENSP00000466403.2:p.Val1359Met
ENST00000592272.6:c.4075G>A	ENSP00000467464.2:p.Val1359Met
ENST00000696482.1:c.3815G>A	ENSP00000512656.1:n.3815G>A
ENST00000696483.1:c.4075G>A	ENSP00000512657.1:p.Val1359Met
ENST00000696484.1:c.4075G>A	ENSP00000512658.1:p.Val1359Met
ENST00000696485.1:c.4075G>A	ENSP00000512659.1:p.Val1359Met
ENST00000696489.1:c.4075G>A	ENSP00000512660.1:p.Val1359Met
ENST00000696490.1:c.4075G>A	ENSP00000512661.1:p.Val1359Met
ENST00000282041.11:c.4075G>A MANE Select	ENSP00000282041.4:p.Val1359Met
ENST00000282041.9:c.4075G>A	ENSP00000282041.4:p.Val1359Met
ENST00000585906.5:n.854G>A
ENST00000587884.1:c.700G>A	ENSP00000466990.1:p.Val234Met
ENST00000587974.1:n.4110G>A
ENST00000590884.5:c.700G>A	ENSP00000466403.1:p.Val234Met
ENST00000592272.5:c.700G>A	ENSP00000467464.1:p.Val234Met
NM_020964.2:c.4075G>A	NP_066015.2:p.Val1359Met
XM_011526120.1:c.4102G>A	XP_011524422.1:p.Val1368Met
XM_011526121.1:c.4102G>A	XP_011524423.1:p.Val1368Met
XM_011526122.1:c.4075G>A	XP_011524424.1:p.Val1359Met
XM_011526123.1:c.4102G>A	XP_011524425.1:p.Val1368Met
XM_011526124.1:c.4102G>A	XP_011524426.1:p.Val1368Met
XM_011526125.1:c.3961G>A	XP_011524427.1:p.Val1321Met
XM_011526126.1:c.3037G>A	XP_011524428.1:p.Val1013Met
XM_011526127.1:c.4102G>A	XP_011524429.1:p.Val1368Met
XM_011526128.1:c.4102G>A	XP_011524430.1:p.Val1368Met
XR_935244.1:n.4175G>A
NM_020964.3:c.4075G>A MANE Select	NP_066015.2:p.Val1359Met
XM_017025889.1:c.4075G>A	XP_016881378.1:p.Val1359Met
XM_017025890.2:c.4075G>A	XP_016881379.1:p.Val1359Met
XM_017025891.1:c.3934G>A	XP_016881380.1:p.Val1312Met
XM_017025892.1:c.3010G>A	XP_016881381.1:p.Val1004Met
XM_017025893.1:c.700G>A	XP_016881382.1:p.Val234Met
XR_001753256.1:n.4157G>A
XR_001753257.1:n.4157G>A