Canonical Allele Identifier: CA262598434

Gene: PSEN1

Linked Data

• dbSNP Id: rs200150596
• gnomAD v2: 14-73603183-A-G
• gnomAD v3: 14-73136475-A-G
• gnomAD v4: 14-73136475-A-G
• MyVariant Identifiers: chr14:g.73603183A>G (hg19) ; chr14:g.73136475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136475A>G , CM000676.2:g.73136475A>G	GRCh38
NC_000014.8:g.73603183A>G , CM000676.1:g.73603183A>G	GRCh37
NC_000014.7:g.72672936A>G	NCBI36
NG_007386.2:g.5005A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.-286A>G	ENSP00000452477.2:n.-286A>G
ENST00000555386.6:c.-244A>G	ENSP00000450845.1:n.-244A>G
ENST00000556011.6:c.-286A>G	ENSP00000451662.2:n.-286A>G
ENST00000556951.6:c.-240A>G	ENSP00000450551.2:n.-240A>G
ENST00000557293.6:c.-240A>G	ENSP00000451880.2:n.-240A>G
ENST00000697912.1:c.-244A>G	ENSP00000513477.1:n.-244A>G
ENST00000697913.1:n.11A>G
ENST00000700265.1:c.-104+27A>G	ENSP00000514901.1:n.-104+27A>G
ENST00000700266.1:c.-244A>G	ENSP00000514902.1:n.-244A>G
ENST00000700267.1:c.-136+27A>G	ENSP00000514903.1:n.-136+27A>G
ENST00000700268.1:c.-240A>G	ENSP00000514904.1:n.-240A>G
ENST00000700269.1:c.-286A>G	ENSP00000514905.1:n.-286A>G
ENST00000700270.1:n.25A>G
ENST00000700271.1:c.-244A>G	ENSP00000514906.1:n.-244A>G
ENST00000700272.1:c.-240A>G	ENSP00000514907.1:n.-240A>G
ENST00000700273.1:c.-286A>G	ENSP00000514908.1:n.-286A>G
ENST00000700302.1:c.-244A>G	ENSP00000514929.1:n.-244A>G
ENST00000700303.1:c.-244A>G	ENSP00000514930.1:n.-244A>G
ENST00000700304.1:c.-244A>G	ENSP00000514931.1:n.-244A>G
ENST00000700305.1:c.-244A>G	ENSP00000514932.1:n.-244A>G
ENST00000700306.1:c.-286A>G	ENSP00000514933.1:n.-286A>G
ENST00000700374.1:n.15A>G
ENST00000700388.1:n.4A>G
ENST00000700389.1:c.-409A>G	ENSP00000514970.1:n.-409A>G
ENST00000324501.9:c.-244A>G	ENSP00000326366.5:n.-244A>G
ENST00000357710.8:c.-244A>G	ENSP00000350342.4:n.-244A>G
ENST00000394157.7:c.-244A>G	ENSP00000377712.3:n.-244A>G
ENST00000553599.5:c.-286A>G	ENSP00000452477.1:n.-286A>G
ENST00000553719.5:c.-240A>G	ENSP00000451674.1:n.-240A>G
ENST00000555254.5:c.-268A>G	ENSP00000450652.1:n.-268A>G
ENST00000556011.5:c.-286A>G	ENSP00000451662.1:n.-286A>G
ENST00000556533.5:c.-233A>G	ENSP00000452128.1:n.-233A>G
ENST00000556864.5:c.-343A>G	ENSP00000451588.1:n.-343A>G
ENST00000556951.5:c.-240A>G	ENSP00000450551.1:n.-240A>G
ENST00000557293.5:c.-240A>G	ENSP00000451880.1:n.-240A>G
ENST00000557356.5:c.-136+27A>G	ENSP00000451498.1:n.-136+27A>G
ENST00000560005.6:c.-346A>G	ENSP00000453466.1:n.-346A>G
NM_000021.3:c.-244A>G	NP_000012.1:n.-244A>G
NM_007318.2:c.-244A>G	NP_015557.2:n.-244A>G
XM_005267864.1:c.-240A>G	XP_005267921.1:n.-240A>G
XM_005267866.1:c.-240A>G	XP_005267923.1:n.-240A>G
XM_005267864.3:c.-240A>G	XP_005267921.1:n.-240A>G
XM_005267866.2:c.-240A>G	XP_005267923.1:n.-240A>G