Canonical Allele Identifier: CA2146453840

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136452A= , CM000676.2:g.73136452A=	GRCh38
NC_000014.8:g.73603160A= , CM000676.1:g.73603160A=	GRCh37
NC_000014.7:g.72672913A=	NCBI36
NG_007386.2:g.4982A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.-309A=	ENSP00000452477.2:n.-309A=
ENST00000555386.6:c.-267A=	ENSP00000450845.1:n.-267A=
ENST00000556011.6:c.-309A=	ENSP00000451662.2:n.-309A=
ENST00000556951.6:c.-263A=	ENSP00000450551.2:n.-263A=
ENST00000557293.6:c.-263A=	ENSP00000451880.2:n.-263A=
ENST00000697912.1:c.-267A=	ENSP00000513477.1:n.-267A=
ENST00000700265.1:c.-104+4A=	ENSP00000514901.1:n.-104+4A=
ENST00000700266.1:c.-267A=	ENSP00000514902.1:n.-267A=
ENST00000700267.1:c.-136+4A=	ENSP00000514903.1:n.-136+4A=
ENST00000700268.1:c.-263A=	ENSP00000514904.1:n.-263A=
ENST00000700269.1:c.-309A=	ENSP00000514905.1:n.-309A=
ENST00000700270.1:n.2A=
ENST00000700271.1:c.-267A=	ENSP00000514906.1:n.-267A=
ENST00000700272.1:c.-263A=	ENSP00000514907.1:n.-263A=
ENST00000324501.9:c.-267A=	ENSP00000326366.5:n.-267A=
ENST00000357710.8:c.-267A=	ENSP00000350342.4:n.-267A=
ENST00000394157.7:c.-267A=	ENSP00000377712.3:n.-267A=
ENST00000553599.5:c.-309A=	ENSP00000452477.1:n.-309A=
ENST00000553719.5:c.-263A=	ENSP00000451674.1:n.-263A=
ENST00000556011.5:c.-309A=	ENSP00000451662.1:n.-309A=
ENST00000556533.5:c.-256A=	ENSP00000452128.1:n.-256A=
ENST00000556864.5:c.-366A=	ENSP00000451588.1:n.-366A=
ENST00000556951.5:c.-263A=	ENSP00000450551.1:n.-263A=
ENST00000557293.5:c.-263A=	ENSP00000451880.1:n.-263A=
ENST00000557356.5:c.-136+4A=	ENSP00000451498.1:n.-136+4A=
ENST00000560005.6:c.-369A=	ENSP00000453466.1:n.-369A=
NM_000021.3:c.-267A=	NP_000012.1:n.-267A=
NM_007318.2:c.-267A=	NP_015557.2:n.-267A=
XM_005267864.1:c.-263A=	XP_005267921.1:n.-263A=
XM_005267866.1:c.-263A=	XP_005267923.1:n.-263A=
XM_005267864.3:c.-263A=	XP_005267921.1:n.-263A=
XM_005267866.2:c.-263A=	XP_005267923.1:n.-263A=