Canonical Allele Identifier: CA402340236

Gene: EPG5

Linked Data

• dbSNP Id: rs1269363241
• gnomAD v2: 18-43490665-A-C
• gnomAD v3: 18-45910700-A-C
• gnomAD v4: 18-45910700-A-C
• MyVariant Identifiers: chr18:g.43490665A>C (hg19) ; chr18:g.45910700A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45910700A>C , CM000680.2:g.45910700A>C	GRCh38
NC_000018.9:g.43490665A>C , CM000680.1:g.43490665A>C	GRCh37
NC_000018.8:g.41744663A>C	NCBI36
NG_042838.1:g.61640T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.2210T>G
ENST00000587884.2:c.4026T>G	ENSP00000466990.2:p.Ser1342Arg
ENST00000590884.6:c.4026T>G	ENSP00000466403.2:p.Ser1342Arg
ENST00000592272.6:c.4026T>G	ENSP00000467464.2:p.Ser1342Arg
ENST00000696482.1:c.3766T>G	ENSP00000512656.1:n.3766T>G
ENST00000696483.1:c.4026T>G	ENSP00000512657.1:p.Ser1342Arg
ENST00000696484.1:c.4026T>G	ENSP00000512658.1:p.Ser1342Arg
ENST00000696485.1:c.4026T>G	ENSP00000512659.1:p.Ser1342Arg
ENST00000696489.1:c.4026T>G	ENSP00000512660.1:p.Ser1342Arg
ENST00000696490.1:c.4026T>G	ENSP00000512661.1:p.Ser1342Arg
ENST00000282041.11:c.4026T>G MANE Select	ENSP00000282041.4:p.Ser1342Arg
ENST00000282041.9:c.4026T>G	ENSP00000282041.4:p.Ser1342Arg
ENST00000585906.5:n.805T>G
ENST00000587884.1:c.651T>G	ENSP00000466990.1:p.Ser217Arg
ENST00000587974.1:n.4061T>G
ENST00000590884.5:c.651T>G	ENSP00000466403.1:p.Ser217Arg
ENST00000592272.5:c.651T>G	ENSP00000467464.1:p.Ser217Arg
NM_020964.2:c.4026T>G	NP_066015.2:p.Ser1342Arg
XM_011526120.1:c.4053T>G	XP_011524422.1:p.Ser1351Arg
XM_011526121.1:c.4053T>G	XP_011524423.1:p.Ser1351Arg
XM_011526122.1:c.4026T>G	XP_011524424.1:p.Ser1342Arg
XM_011526123.1:c.4053T>G	XP_011524425.1:p.Ser1351Arg
XM_011526124.1:c.4053T>G	XP_011524426.1:p.Ser1351Arg
XM_011526125.1:c.3912T>G	XP_011524427.1:p.Ser1304Arg
XM_011526126.1:c.2988T>G	XP_011524428.1:p.Ser996Arg
XM_011526127.1:c.4053T>G	XP_011524429.1:p.Ser1351Arg
XM_011526128.1:c.4053T>G	XP_011524430.1:p.Ser1351Arg
XR_935244.1:n.4126T>G
NM_020964.3:c.4026T>G MANE Select	NP_066015.2:p.Ser1342Arg
XM_017025889.1:c.4026T>G	XP_016881378.1:p.Ser1342Arg
XM_017025890.2:c.4026T>G	XP_016881379.1:p.Ser1342Arg
XM_017025891.1:c.3885T>G	XP_016881380.1:p.Ser1295Arg
XM_017025892.1:c.2961T>G	XP_016881381.1:p.Ser987Arg
XM_017025893.1:c.651T>G	XP_016881382.1:p.Ser217Arg
XR_001753256.1:n.4108T>G
XR_001753257.1:n.4108T>G