Canonical Allele Identifier: CA708424265

Gene: PSEN1

Linked Data

• dbSNP Id: rs200531676
• gnomAD v3: 14-73136493-C-T
• gnomAD v4: 14-73136493-C-T
• MyVariant Identifiers: chr14:g.73603201C>T (hg19) ; chr14:g.73136493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136493C>T , CM000676.2:g.73136493C>T	GRCh38
NC_000014.8:g.73603201C>T , CM000676.1:g.73603201C>T	GRCh37
NC_000014.7:g.72672954C>T	NCBI36
NG_007386.2:g.5023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553447.7:c.-263C>T	ENSP00000514869.1:n.-263C>T
ENST00000553599.6:c.-268C>T	ENSP00000452477.2:n.-268C>T
ENST00000555386.6:c.-226C>T	ENSP00000450845.1:n.-226C>T
ENST00000556011.6:c.-268C>T	ENSP00000451662.2:n.-268C>T
ENST00000556951.6:c.-222C>T	ENSP00000450551.2:n.-222C>T
ENST00000557293.6:c.-222C>T	ENSP00000451880.2:n.-222C>T
ENST00000697912.1:c.-226C>T	ENSP00000513477.1:n.-226C>T
ENST00000697913.1:n.29C>T
ENST00000700265.1:c.-104+45C>T	ENSP00000514901.1:n.-104+45C>T
ENST00000700266.1:c.-226C>T	ENSP00000514902.1:n.-226C>T
ENST00000700267.1:c.-136+45C>T	ENSP00000514903.1:n.-136+45C>T
ENST00000700268.1:c.-222C>T	ENSP00000514904.1:n.-222C>T
ENST00000700269.1:c.-268C>T	ENSP00000514905.1:n.-268C>T
ENST00000700270.1:n.43C>T
ENST00000700271.1:c.-226C>T	ENSP00000514906.1:n.-226C>T
ENST00000700272.1:c.-222C>T	ENSP00000514907.1:n.-222C>T
ENST00000700273.1:c.-268C>T	ENSP00000514908.1:n.-268C>T
ENST00000700302.1:c.-226C>T	ENSP00000514929.1:n.-226C>T
ENST00000700303.1:c.-226C>T	ENSP00000514930.1:n.-226C>T
ENST00000700304.1:c.-226C>T	ENSP00000514931.1:n.-226C>T
ENST00000700305.1:c.-226C>T	ENSP00000514932.1:n.-226C>T
ENST00000700306.1:c.-268C>T	ENSP00000514933.1:n.-268C>T
ENST00000700307.1:c.-226C>T	ENSP00000514934.1:n.-226C>T
ENST00000700308.1:c.-226C>T	ENSP00000514935.1:n.-226C>T
ENST00000700309.1:c.-226C>T	ENSP00000514936.1:n.-226C>T
ENST00000700374.1:n.33C>T
ENST00000700388.1:n.22C>T
ENST00000700389.1:c.-391C>T	ENSP00000514970.1:n.-391C>T
ENST00000324501.9:c.-226C>T	ENSP00000326366.5:n.-226C>T
ENST00000357710.8:c.-226C>T	ENSP00000350342.4:n.-226C>T
ENST00000394157.7:c.-226C>T	ENSP00000377712.3:n.-226C>T
ENST00000553447.6:n.17C>T
ENST00000553599.5:c.-268C>T	ENSP00000452477.1:n.-268C>T
ENST00000553719.5:c.-222C>T	ENSP00000451674.1:n.-222C>T
ENST00000555254.5:c.-250C>T	ENSP00000450652.1:n.-250C>T
ENST00000556011.5:c.-268C>T	ENSP00000451662.1:n.-268C>T
ENST00000556533.5:c.-215C>T	ENSP00000452128.1:n.-215C>T
ENST00000556864.5:c.-325C>T	ENSP00000451588.1:n.-325C>T
ENST00000556951.5:c.-222C>T	ENSP00000450551.1:n.-222C>T
ENST00000557293.5:c.-222C>T	ENSP00000451880.1:n.-222C>T
ENST00000557356.5:c.-136+45C>T	ENSP00000451498.1:n.-136+45C>T
ENST00000560005.6:c.-328C>T	ENSP00000453466.1:n.-328C>T
NM_000021.3:c.-226C>T	NP_000012.1:n.-226C>T
NM_007318.2:c.-226C>T	NP_015557.2:n.-226C>T
XM_005267864.1:c.-222C>T	XP_005267921.1:n.-222C>T
XM_005267866.1:c.-222C>T	XP_005267923.1:n.-222C>T
XM_005267864.3:c.-222C>T	XP_005267921.1:n.-222C>T
XM_005267866.2:c.-222C>T	XP_005267923.1:n.-222C>T