Canonical Allele Identifier: CA2625553070

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136431-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136431C>A , CM000676.2:g.73136431C>A	GRCh38
NC_000014.8:g.73603139C>A , CM000676.1:g.73603139C>A	GRCh37
NC_000014.7:g.72672892C>A	NCBI36
NG_007386.2:g.4961C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700265.1:c.-121C>A	ENSP00000514901.1:n.-121C>A
ENST00000700266.1:c.-288C>A	ENSP00000514902.1:n.-288C>A
ENST00000700267.1:c.-153C>A	ENSP00000514903.1:n.-153C>A
ENST00000557356.5:c.-153C>A	ENSP00000451498.1:n.-153C>A