Canonical Allele Identifier: CA402340054

Gene: EPG5

Linked Data

• ClinVar Variation Id: 1030741
• ClinVar RCV Id: RCV001332377
• dbSNP Id: rs2049869676
• MyVariant Identifiers: chr18:g.43490583G>A (hg19) ; chr18:g.45910618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910618G>A , CM000680.2:g.45910618G>A	GRCh38
NC_000018.9:g.43490583G>A , CM000680.1:g.43490583G>A	GRCh37
NC_000018.8:g.41744581G>A	NCBI36
NG_042838.1:g.61722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2292C>T
ENST00000587884.2:c.4108C>T	ENSP00000466990.2:p.Leu1370Phe
ENST00000590884.6:c.4108C>T	ENSP00000466403.2:p.Leu1370Phe
ENST00000592272.6:c.4108C>T	ENSP00000467464.2:p.Leu1370Phe
ENST00000696482.1:c.3848C>T	ENSP00000512656.1:n.3848C>T
ENST00000696483.1:c.4108C>T	ENSP00000512657.1:p.Leu1370Phe
ENST00000696484.1:c.4108C>T	ENSP00000512658.1:p.Leu1370Phe
ENST00000696485.1:c.4108C>T	ENSP00000512659.1:p.Leu1370Phe
ENST00000696489.1:c.4108C>T	ENSP00000512660.1:p.Leu1370Phe
ENST00000696490.1:c.4108C>T	ENSP00000512661.1:p.Leu1370Phe
ENST00000282041.11:c.4108C>T MANE Select	ENSP00000282041.4:p.Leu1370Phe
ENST00000282041.9:c.4108C>T	ENSP00000282041.4:p.Leu1370Phe
ENST00000585906.5:n.887C>T
ENST00000587884.1:c.733C>T	ENSP00000466990.1:p.Leu245Phe
ENST00000587974.1:n.4143C>T
ENST00000590884.5:c.733C>T	ENSP00000466403.1:p.Leu245Phe
ENST00000592272.5:c.733C>T	ENSP00000467464.1:p.Leu245Phe
NM_020964.2:c.4108C>T	NP_066015.2:p.Leu1370Phe
XM_011526120.1:c.4135C>T	XP_011524422.1:p.Leu1379Phe
XM_011526121.1:c.4135C>T	XP_011524423.1:p.Leu1379Phe
XM_011526122.1:c.4108C>T	XP_011524424.1:p.Leu1370Phe
XM_011526123.1:c.4135C>T	XP_011524425.1:p.Leu1379Phe
XM_011526124.1:c.4135C>T	XP_011524426.1:p.Leu1379Phe
XM_011526125.1:c.3994C>T	XP_011524427.1:p.Leu1332Phe
XM_011526126.1:c.3070C>T	XP_011524428.1:p.Leu1024Phe
XM_011526127.1:c.4135C>T	XP_011524429.1:p.Leu1379Phe
XM_011526128.1:c.4135C>T	XP_011524430.1:p.Leu1379Phe
XR_935244.1:n.4208C>T
NM_020964.3:c.4108C>T MANE Select	NP_066015.2:p.Leu1370Phe
XM_017025889.1:c.4108C>T	XP_016881378.1:p.Leu1370Phe
XM_017025890.2:c.4108C>T	XP_016881379.1:p.Leu1370Phe
XM_017025891.1:c.3967C>T	XP_016881380.1:p.Leu1323Phe
XM_017025892.1:c.3043C>T	XP_016881381.1:p.Leu1015Phe
XM_017025893.1:c.733C>T	XP_016881382.1:p.Leu245Phe
XR_001753256.1:n.4190C>T
XR_001753257.1:n.4190C>T