Canonical Allele Identifier: CA1140611366

Gene: EPS15

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.51408295G= , CM000663.2:g.51408295G=	GRCh38
NC_000001.10:g.51873967G= , CM000663.1:g.51873967G=	GRCh37
NC_000001.9:g.51646555G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493793.2:c.371C=	ENSP00000516332.1:p.Ser124=
ENST00000706287.1:c.890C=	ENSP00000516333.1:p.Ser297=
ENST00000706288.1:c.1223C=	ENSP00000516334.1:p.Ser408=
ENST00000706289.1:n.559C=
ENST00000706290.1:n.816C=
ENST00000706291.1:c.*261C=	ENSP00000516335.1:n.*261C=
ENST00000706292.1:c.1424C=	ENSP00000516336.1:p.Ser475=
ENST00000706293.1:c.*1276C=	ENSP00000516337.1:n.*1276C=
ENST00000371733.8:c.1313C= MANE Select	ENSP00000360798.3:p.Ser438=
ENST00000371730.6:c.1275+1240C=	ENSP00000360795.2:n.1275+1240C=
ENST00000371733.7:c.1313C=	ENSP00000360798.3:p.Ser438=
ENST00000493793.1:n.519C=
NM_001159969.1:c.371C=	NP_001153441.1:p.Ser124=
NM_001981.2:c.1313C=	NP_001972.1:p.Ser438=
XM_005270618.1:c.1223C=	XP_005270675.1:p.Ser408=
XM_006710446.1:c.599C=	XP_006710509.1:p.Ser200=
XM_011540991.1:c.749C=	XP_011539293.1:p.Ser250=
XM_005270618.3:c.1223C=	XP_005270675.1:p.Ser408=
XM_017000615.2:c.1424C=	XP_016856104.1:p.Ser475=
XM_017000616.2:c.1424C=	XP_016856105.1:p.Ser475=
XM_017000617.2:c.1313C=	XP_016856106.1:p.Ser438=
XM_017000618.2:c.1223C=	XP_016856107.1:p.Ser408=
XM_017000619.2:c.749C=	XP_016856108.1:p.Ser250=
XM_017000620.2:c.599C=	XP_016856109.1:p.Ser200=
NM_001981.3:c.1313C= MANE Select	NP_001972.1:p.Ser438=
NM_001159969.2:c.371C=	NP_001153441.1:p.Ser124=