Canonical Allele Identifier: CA1139774281

Gene: EPS15

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.51361249T= , CM000663.2:g.51361249T=	GRCh38
NC_000001.10:g.51826921T= , CM000663.1:g.51826921T=	GRCh37
NC_000001.9:g.51599509T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493793.2:c.1524A=	ENSP00000516332.1:p.Ile508=
ENST00000706287.1:c.2043A=	ENSP00000516333.1:p.Ile681=
ENST00000706288.1:c.2376A=	ENSP00000516334.1:p.Ile792=
ENST00000706289.1:n.1712A=
ENST00000706290.1:n.1969A=
ENST00000706291.1:c.*1414A=	ENSP00000516335.1:n.*1414A=
ENST00000706292.1:c.2577A=	ENSP00000516336.1:p.Ile859=
ENST00000371733.8:c.2466A= MANE Select	ENSP00000360798.3:p.Ile822=
ENST00000371730.6:c.2064A=	ENSP00000360795.2:p.Ile688=
ENST00000371733.7:c.2466A=	ENSP00000360798.3:p.Ile822=
NM_001159969.1:c.1524A=	NP_001153441.1:p.Ile508=
NM_001981.2:c.2466A=	NP_001972.1:p.Ile822=
XM_005270618.1:c.2376A=	XP_005270675.1:p.Ile792=
XM_006710446.1:c.1752A=	XP_006710509.1:p.Ile584=
XM_011540991.1:c.1902A=	XP_011539293.1:p.Ile634=
XM_005270618.3:c.2376A=	XP_005270675.1:p.Ile792=
XM_017000615.2:c.2577A=	XP_016856104.1:p.Ile859=
XM_017000616.2:c.2373A=	XP_016856105.1:p.Ile791=
XM_017000617.2:c.2262A=	XP_016856106.1:p.Ile754=
XM_017000618.2:c.2172A=	XP_016856107.1:p.Ile724=
XM_017000619.2:c.1902A=	XP_016856108.1:p.Ile634=
XM_017000620.2:c.1752A=	XP_016856109.1:p.Ile584=
NM_001981.3:c.2466A= MANE Select	NP_001972.1:p.Ile822=
NM_001159969.2:c.1524A=	NP_001153441.1:p.Ile508=