Canonical Allele Identifier: CA2146453833

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136439G= , CM000676.2:g.73136439G=	GRCh38
NC_000014.8:g.73603147G= , CM000676.1:g.73603147G=	GRCh37
NC_000014.7:g.72672900G=	NCBI36
NG_007386.2:g.4969G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556951.6:c.-276G=	ENSP00000450551.2:n.-276G=
ENST00000557293.6:c.-276G=	ENSP00000451880.2:n.-276G=
ENST00000700265.1:c.-113G=	ENSP00000514901.1:n.-113G=
ENST00000700266.1:c.-280G=	ENSP00000514902.1:n.-280G=
ENST00000700267.1:c.-145G=	ENSP00000514903.1:n.-145G=
ENST00000700268.1:c.-276G=	ENSP00000514904.1:n.-276G=
ENST00000556533.5:c.-269G=	ENSP00000452128.1:n.-269G=
ENST00000556864.5:c.-379G=	ENSP00000451588.1:n.-379G=
ENST00000556951.5:c.-276G=	ENSP00000450551.1:n.-276G=
ENST00000557293.5:c.-276G=	ENSP00000451880.1:n.-276G=
ENST00000557356.5:c.-145G=	ENSP00000451498.1:n.-145G=
NM_000021.3:c.-280G=	NP_000012.1:n.-280G=
NM_007318.2:c.-280G=	NP_015557.2:n.-280G=
XM_005267864.1:c.-276G=	XP_005267921.1:n.-276G=
XM_005267866.1:c.-276G=	XP_005267923.1:n.-276G=
XM_005267866.2:c.-276G=	XP_005267923.1:n.-276G=