Canonical Allele Identifier: CA2146453828

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136428G= , CM000676.2:g.73136428G=	GRCh38
NC_000014.8:g.73603136G= , CM000676.1:g.73603136G=	GRCh37
NC_000014.7:g.72672889G=	NCBI36
NG_007386.2:g.4958G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000700265.1:c.-124G=	ENSP00000514901.1:n.-124G=
ENST00000700266.1:c.-291G=	ENSP00000514902.1:n.-291G=
ENST00000700267.1:c.-156G=	ENSP00000514903.1:n.-156G=
ENST00000557356.5:c.-156G=	ENSP00000451498.1:n.-156G=