Canonical Allele Identifier: CA402338943
Gene: EPG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 534597
ClinVar RCV Id: RCV000642210
dbSNP Id: rs1555662276

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45866824T>C , CM000680.2:g.45866824T>C GRCh38
NC_000018.9:g.43446789T>C , CM000680.1:g.43446789T>C GRCh37
NC_000018.8:g.41700787T>C NCBI36
NG_042838.1:g.105516A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000586655.2:n.4856A>G
ENST00000587884.2:c.6721A>G ENSP00000466990.2:n.6721A>G
ENST00000587973.2:n.2460A>G
ENST00000590884.6:c.6256A>G ENSP00000466403.2:n.6256A>G
ENST00000592272.6:c.6488A>G ENSP00000467464.2:n.6488A>G
ENST00000696481.1:n.3227A>G
ENST00000696482.1:c.6335A>G ENSP00000512656.1:n.6335A>G
ENST00000696483.1:c.6595A>G ENSP00000512657.1:p.Ile2199Val
ENST00000696484.1:c.6595A>G ENSP00000512658.1:p.Ile2199Val
ENST00000696485.1:c.*1187A>G ENSP00000512659.1:n.*1187A>G
ENST00000696489.1:c.6592A>G ENSP00000512660.1:p.Ile2198Val
ENST00000696490.1:c.6595A>G ENSP00000512661.1:p.Ile2199Val
ENST00000282041.11:c.6595A>G MANE Select ENSP00000282041.4:p.Ile2199Val
ENST00000282041.9:c.6595A>G ENSP00000282041.4:p.Ile2199Val
ENST00000585906.5:n.3374A>G
ENST00000587884.1:c.*2335A>G ENSP00000466990.1:n.*2335A>G
ENST00000590854.5:c.372A>G
ENST00000590884.5:c.*907A>G ENSP00000466403.1:n.*907A>G
ENST00000592272.5:c.*542A>G ENSP00000467464.1:n.*542A>G
NM_020964.2:c.6595A>G NP_066015.2:p.Ile2199Val
XM_011526120.1:c.6622A>G XP_011524422.1:p.Ile2208Val
XM_011526121.1:c.6619A>G XP_011524423.1:p.Ile2207Val
XM_011526122.1:c.6595A>G XP_011524424.1:p.Ile2199Val
XM_011526123.1:c.6622A>G XP_011524425.1:p.Ile2208Val
XM_011526124.1:c.6622A>G XP_011524426.1:p.Ile2208Val
XM_011526125.1:c.6481A>G XP_011524427.1:p.Ile2161Val
XM_011526126.1:c.5557A>G XP_011524428.1:p.Ile1853Val
XR_935244.1:n.6588A>G
NM_020964.3:c.6595A>G MANE Select NP_066015.2:p.Ile2199Val
XM_017025889.1:c.6592A>G XP_016881378.1:p.Ile2198Val
XM_017025890.2:c.6595A>G XP_016881379.1:p.Ile2199Val
XM_017025891.1:c.6454A>G XP_016881380.1:p.Ile2152Val
XM_017025892.1:c.5530A>G XP_016881381.1:p.Ile1844Val
XM_017025893.1:c.3220A>G XP_016881382.1:p.Ile1074Val
XR_001753256.1:n.6570A>G
XR_001753257.1:n.6618A>G