Canonical Allele Identifier: CA262598407
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs1053226262

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136433G>T , CM000676.2:g.73136433G>T GRCh38
NC_000014.8:g.73603141G>T , CM000676.1:g.73603141G>T GRCh37
NC_000014.7:g.72672894G>T NCBI36
NG_007386.2:g.4963G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700265.1:c.-119G>T ENSP00000514901.1:n.-119G>T
ENST00000700266.1:c.-286G>T ENSP00000514902.1:n.-286G>T
ENST00000700267.1:c.-151G>T ENSP00000514903.1:n.-151G>T
ENST00000557356.5:c.-151G>T ENSP00000451498.1:n.-151G>T