Canonical Allele Identifier: CA262598410

Gene: PSEN1

Linked Data

• dbSNP Id: rs891842710
• gnomAD v4: 14-73136437-A-G
• MyVariant Identifiers: chr14:g.73603145A>G (hg19) ; chr14:g.73136437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136437A>G , CM000676.2:g.73136437A>G	GRCh38
NC_000014.8:g.73603145A>G , CM000676.1:g.73603145A>G	GRCh37
NC_000014.7:g.72672898A>G	NCBI36
NG_007386.2:g.4967A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000556951.6:c.-278A>G	ENSP00000450551.2:n.-278A>G
ENST00000557293.6:c.-278A>G	ENSP00000451880.2:n.-278A>G
ENST00000700265.1:c.-115A>G	ENSP00000514901.1:n.-115A>G
ENST00000700266.1:c.-282A>G	ENSP00000514902.1:n.-282A>G
ENST00000700267.1:c.-147A>G	ENSP00000514903.1:n.-147A>G
ENST00000556533.5:c.-271A>G	ENSP00000452128.1:n.-271A>G
ENST00000556864.5:c.-381A>G	ENSP00000451588.1:n.-381A>G
ENST00000556951.5:c.-278A>G	ENSP00000450551.1:n.-278A>G
ENST00000557293.5:c.-278A>G	ENSP00000451880.1:n.-278A>G
ENST00000557356.5:c.-147A>G	ENSP00000451498.1:n.-147A>G
NM_000021.3:c.-282A>G	NP_000012.1:n.-282A>G
NM_007318.2:c.-282A>G	NP_015557.2:n.-282A>G
XM_005267864.1:c.-278A>G	XP_005267921.1:n.-278A>G
XM_005267866.1:c.-278A>G	XP_005267923.1:n.-278A>G
XM_005267866.2:c.-278A>G	XP_005267923.1:n.-278A>G