Canonical Allele Identifier: CA2146470997

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73173585G= , CM000676.2:g.73173585G=	GRCh38
NC_000014.8:g.73640293G= , CM000676.1:g.73640293G=	GRCh37
NC_000014.7:g.72710046G=	NCBI36
NG_007386.2:g.42115G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.358G= MANE Select	ENSP00000326366.5:p.Glu120=
ENST00000324501.9:c.358G=	ENSP00000326366.5:p.Glu120=
ENST00000357710.8:c.346G=	ENSP00000350342.4:p.Glu116=
ENST00000394157.7:c.358G=	ENSP00000377712.3:p.Glu120=
ENST00000394164.5:c.346G=	ENSP00000377719.1:p.Glu116=
ENST00000406768.1:c.82G=	ENSP00000385948.1:p.Glu28=
ENST00000553719.5:c.346G=	ENSP00000451674.1:p.Glu116=
ENST00000553855.5:n.358G=	ENSP00000452242.1:p.Glu120=
ENST00000555254.5:c.358G=	ENSP00000450652.1:p.Glu120=
ENST00000555386.5:n.346G=	ENSP00000450845.1:p.Glu116=
ENST00000557356.5:c.346G=	ENSP00000451498.1:p.Glu116=
ENST00000557511.5:n.358G=	ENSP00000451429.1:p.Glu120=
ENST00000559361.5:c.*302G=	ENSP00000454156.1:n.*302G=
NM_000021.3:c.358G=	NP_000012.1:p.Glu120=
NM_007318.2:c.346G=	NP_015557.2:p.Glu116=
XM_005267864.1:c.358G=	XP_005267921.1:p.Glu120=
XM_005267866.1:c.346G=	XP_005267923.1:p.Glu116=
XM_011536971.1:c.358G=	XP_011535273.1:p.Glu120=
XM_011536972.1:c.358G=	XP_011535274.1:p.Glu120=
XM_011536973.1:c.346G=	XP_011535275.1:p.Glu116=
XM_011536974.1:c.346G=	XP_011535276.1:p.Glu116=
XM_005267864.3:c.358G=	XP_005267921.1:p.Glu120=
XM_005267866.2:c.346G=	XP_005267923.1:p.Glu116=
XM_011536972.2:c.358G=	XP_011535274.1:p.Glu120=
XM_011536973.2:c.346G=	XP_011535275.1:p.Glu116=
XM_011536974.2:c.346G=	XP_011535276.1:p.Glu116=
NM_000021.4:c.358G= MANE Select	NP_000012.1:p.Glu120=
NM_007318.3:c.346G=	NP_015557.2:p.Glu116=