Canonical Allele Identifier: CA8948982

Gene: EPG5

Linked Data

• dbSNP Id: rs772778341
• ExAC: 18:43490582 A / C
• gnomAD v2: 18-43490582-A-C
• gnomAD v3: 18-45910617-A-C
• gnomAD v4: 18-45910617-A-C
• MyVariant Identifiers: chr18:g.43490582A>C (hg19) ; chr18:g.45910617A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910617A>C , CM000680.2:g.45910617A>C	GRCh38
NC_000018.9:g.43490582A>C , CM000680.1:g.43490582A>C	GRCh37
NC_000018.8:g.41744580A>C	NCBI36
NG_042838.1:g.61723T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2293T>G
ENST00000587884.2:c.4109T>G	ENSP00000466990.2:p.Leu1370Arg
ENST00000590884.6:c.4109T>G	ENSP00000466403.2:p.Leu1370Arg
ENST00000592272.6:c.4109T>G	ENSP00000467464.2:p.Leu1370Arg
ENST00000696482.1:c.3849T>G	ENSP00000512656.1:n.3849T>G
ENST00000696483.1:c.4109T>G	ENSP00000512657.1:p.Leu1370Arg
ENST00000696484.1:c.4109T>G	ENSP00000512658.1:p.Leu1370Arg
ENST00000696485.1:c.4109T>G	ENSP00000512659.1:p.Leu1370Arg
ENST00000696489.1:c.4109T>G	ENSP00000512660.1:p.Leu1370Arg
ENST00000696490.1:c.4109T>G	ENSP00000512661.1:p.Leu1370Arg
ENST00000282041.11:c.4109T>G MANE Select	ENSP00000282041.4:p.Leu1370Arg
ENST00000282041.9:c.4109T>G	ENSP00000282041.4:p.Leu1370Arg
ENST00000585906.5:n.888T>G
ENST00000587884.1:c.734T>G	ENSP00000466990.1:p.Leu245Arg
ENST00000587974.1:n.4144T>G
ENST00000590884.5:c.734T>G	ENSP00000466403.1:p.Leu245Arg
ENST00000592272.5:c.734T>G	ENSP00000467464.1:p.Leu245Arg
NM_020964.2:c.4109T>G	NP_066015.2:p.Leu1370Arg
XM_011526120.1:c.4136T>G	XP_011524422.1:p.Leu1379Arg
XM_011526121.1:c.4136T>G	XP_011524423.1:p.Leu1379Arg
XM_011526122.1:c.4109T>G	XP_011524424.1:p.Leu1370Arg
XM_011526123.1:c.4136T>G	XP_011524425.1:p.Leu1379Arg
XM_011526124.1:c.4136T>G	XP_011524426.1:p.Leu1379Arg
XM_011526125.1:c.3995T>G	XP_011524427.1:p.Leu1332Arg
XM_011526126.1:c.3071T>G	XP_011524428.1:p.Leu1024Arg
XM_011526127.1:c.4136T>G	XP_011524429.1:p.Leu1379Arg
XM_011526128.1:c.4136T>G	XP_011524430.1:p.Leu1379Arg
XR_935244.1:n.4209T>G
NM_020964.3:c.4109T>G MANE Select	NP_066015.2:p.Leu1370Arg
XM_017025889.1:c.4109T>G	XP_016881378.1:p.Leu1370Arg
XM_017025890.2:c.4109T>G	XP_016881379.1:p.Leu1370Arg
XM_017025891.1:c.3968T>G	XP_016881380.1:p.Leu1323Arg
XM_017025892.1:c.3044T>G	XP_016881381.1:p.Leu1015Arg
XM_017025893.1:c.734T>G	XP_016881382.1:p.Leu245Arg
XR_001753256.1:n.4191T>G
XR_001753257.1:n.4191T>G