Canonical Allele Identifier: CA262598400

Gene: PSEN1

Linked Data

• dbSNP Id: rs901012638
• gnomAD v3: 14-73136424-G-T
• gnomAD v4: 14-73136424-G-T
• MyVariant Identifiers: chr14:g.73603132G>T (hg19) ; chr14:g.73136424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136424G>T , CM000676.2:g.73136424G>T	GRCh38
NC_000014.8:g.73603132G>T , CM000676.1:g.73603132G>T	GRCh37
NC_000014.7:g.72672885G>T	NCBI36
NG_007386.2:g.4954G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700265.1:c.-128G>T	ENSP00000514901.1:n.-128G>T
ENST00000557356.5:c.-160G>T	ENSP00000451498.1:n.-160G>T