Canonical Allele Identifier: CA2625553071

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136431-C-T

Genomic Alleles

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

Transcript Alleles

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