Canonical Allele Identifier: CA402335772

Gene: EPG5

Linked Data

• MyVariant Identifiers: chr18:g.43437820G>T (hg19) ; chr18:g.45857855G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45857855G>T , CM000680.2:g.45857855G>T	GRCh38
NC_000018.9:g.43437820G>T , CM000680.1:g.43437820G>T	GRCh37
NC_000018.8:g.41691818G>T	NCBI36
NG_042838.1:g.114485C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586655.2:n.5701C>A
ENST00000587884.2:c.7566C>A	ENSP00000466990.2:n.7566C>A
ENST00000587973.2:n.3305C>A
ENST00000590884.6:c.7101C>A	ENSP00000466403.2:n.7101C>A
ENST00000592272.6:c.7333C>A	ENSP00000467464.2:n.7333C>A
ENST00000696481.1:n.4072C>A
ENST00000696482.1:c.7180C>A	ENSP00000512656.1:n.7180C>A
ENST00000696483.1:c.7440C>A	ENSP00000512657.1:p.Asn2480Lys
ENST00000696484.1:c.7440C>A	ENSP00000512658.1:p.Asn2480Lys
ENST00000696485.1:c.*2032C>A	ENSP00000512659.1:n.*2032C>A
ENST00000696489.1:c.7437C>A	ENSP00000512660.1:p.Asn2479Lys
ENST00000696490.1:c.7440C>A	ENSP00000512661.1:p.Asn2480Lys
ENST00000282041.11:c.7440C>A MANE Select	ENSP00000282041.4:p.Asn2480Lys
ENST00000282041.9:c.7440C>A	ENSP00000282041.4:p.Asn2480Lys
ENST00000585906.5:n.4219C>A
ENST00000587262.1:n.300C>A
ENST00000587884.1:c.*3180C>A	ENSP00000466990.1:n.*3180C>A
ENST00000590854.5:c.1217C>A
ENST00000590884.5:c.*1752C>A	ENSP00000466403.1:n.*1752C>A
ENST00000592272.5:c.*1387C>A	ENSP00000467464.1:n.*1387C>A
NM_020964.2:c.7440C>A	NP_066015.2:p.Asn2480Lys
XM_011526120.1:c.7467C>A	XP_011524422.1:p.Asn2489Lys
XM_011526121.1:c.7464C>A	XP_011524423.1:p.Asn2488Lys
XM_011526122.1:c.7440C>A	XP_011524424.1:p.Asn2480Lys
XM_011526123.1:c.7467C>A	XP_011524425.1:p.Asn2489Lys
XM_011526124.1:c.7467C>A	XP_011524426.1:p.Asn2489Lys
XM_011526125.1:c.7326C>A	XP_011524427.1:p.Asn2442Lys
XM_011526126.1:c.6402C>A	XP_011524428.1:p.Asn2134Lys
XR_935244.1:n.7433C>A
NM_020964.3:c.7440C>A MANE Select	NP_066015.2:p.Asn2480Lys
XM_017025889.1:c.7437C>A	XP_016881378.1:p.Asn2479Lys
XM_017025890.2:c.7440C>A	XP_016881379.1:p.Asn2480Lys
XM_017025891.1:c.7299C>A	XP_016881380.1:p.Asn2433Lys
XM_017025892.1:c.6375C>A	XP_016881381.1:p.Asn2125Lys
XM_017025893.1:c.4065C>A	XP_016881382.1:p.Asn1355Lys
XR_001753256.1:n.7415C>A
XR_001753257.1:n.7463C>A