Canonical Allele Identifier: CA262598526

Gene: PSEN1

Linked Data

• dbSNP Id: rs199812637
• gnomAD v3: 14-73136555-G-A
• gnomAD v4: 14-73136555-G-A
• MyVariant Identifiers: chr14:g.73603263G>A (hg19) ; chr14:g.73136555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136555G>A , CM000676.2:g.73136555G>A	GRCh38
NC_000014.8:g.73603263G>A , CM000676.1:g.73603263G>A	GRCh37
NC_000014.7:g.72673016G>A	NCBI36
NG_007386.2:g.5085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553447.7:c.-201G>A	ENSP00000514869.1:n.-201G>A
ENST00000553599.6:c.-206G>A	ENSP00000452477.2:n.-206G>A
ENST00000554131.6:c.-205G>A	ENSP00000451915.2:n.-205G>A
ENST00000555386.6:c.-164G>A	ENSP00000450845.1:n.-164G>A
ENST00000556011.6:c.-206G>A	ENSP00000451662.2:n.-206G>A
ENST00000556951.6:c.-160G>A	ENSP00000450551.2:n.-160G>A
ENST00000557293.6:c.-160G>A	ENSP00000451880.2:n.-160G>A
ENST00000559361.6:c.-160G>A	ENSP00000454156.1:n.-160G>A
ENST00000697912.1:c.-164G>A	ENSP00000513477.1:n.-164G>A
ENST00000697913.1:n.91G>A
ENST00000697914.1:n.49G>A
ENST00000700265.1:c.-104+107G>A	ENSP00000514901.1:n.-104+107G>A
ENST00000700266.1:c.-164G>A	ENSP00000514902.1:n.-164G>A
ENST00000700267.1:c.-136+107G>A	ENSP00000514903.1:n.-136+107G>A
ENST00000700268.1:c.-160G>A	ENSP00000514904.1:n.-160G>A
ENST00000700269.1:c.-206G>A	ENSP00000514905.1:n.-206G>A
ENST00000700270.1:n.105G>A
ENST00000700271.1:c.-164G>A	ENSP00000514906.1:n.-164G>A
ENST00000700272.1:c.-160G>A	ENSP00000514907.1:n.-160G>A
ENST00000700273.1:c.-206G>A	ENSP00000514908.1:n.-206G>A
ENST00000700302.1:c.-164G>A	ENSP00000514929.1:n.-164G>A
ENST00000700303.1:c.-164G>A	ENSP00000514930.1:n.-164G>A
ENST00000700304.1:c.-164G>A	ENSP00000514931.1:n.-164G>A
ENST00000700305.1:c.-164G>A	ENSP00000514932.1:n.-164G>A
ENST00000700306.1:c.-206G>A	ENSP00000514933.1:n.-206G>A
ENST00000700307.1:c.-164G>A	ENSP00000514934.1:n.-164G>A
ENST00000700308.1:c.-164G>A	ENSP00000514935.1:n.-164G>A
ENST00000700309.1:c.-164G>A	ENSP00000514936.1:n.-164G>A
ENST00000700310.1:c.-164G>A	ENSP00000514937.1:n.-164G>A
ENST00000700311.1:c.-205G>A	ENSP00000514938.1:n.-205G>A
ENST00000700312.1:c.-313G>A	ENSP00000514939.1:n.-313G>A
ENST00000700313.1:c.-201G>A	ENSP00000514940.1:n.-201G>A
ENST00000700314.1:c.-164G>A	ENSP00000514941.1:n.-164G>A
ENST00000700315.1:c.-164G>A	ENSP00000514942.1:n.-164G>A
ENST00000700316.1:c.-164G>A	ENSP00000514943.1:n.-164G>A
ENST00000700317.1:c.-132G>A	ENSP00000514944.1:n.-132G>A
ENST00000700318.1:c.-164G>A	ENSP00000514945.1:n.-164G>A
ENST00000700319.1:c.-164G>A	ENSP00000514946.1:n.-164G>A
ENST00000700320.1:c.-164G>A	ENSP00000514947.1:n.-164G>A
ENST00000700321.1:c.-166G>A	ENSP00000514948.1:n.-166G>A
ENST00000700322.1:c.-132G>A	ENSP00000514949.1:n.-132G>A
ENST00000700323.1:c.-210G>A	ENSP00000514950.1:n.-210G>A
ENST00000700324.1:c.-205G>A	ENSP00000514951.1:n.-205G>A
ENST00000700374.1:n.95G>A
ENST00000700375.1:c.-263G>A	ENSP00000514966.1:n.-263G>A
ENST00000700388.1:n.84G>A
ENST00000700389.1:c.-329G>A	ENSP00000514970.1:n.-329G>A
ENST00000324501.10:c.-164G>A MANE Select	ENSP00000326366.5:n.-164G>A
ENST00000324501.9:c.-164G>A	ENSP00000326366.5:n.-164G>A
ENST00000357710.8:c.-164G>A	ENSP00000350342.4:n.-164G>A
ENST00000394157.7:c.-164G>A	ENSP00000377712.3:n.-164G>A
ENST00000553447.6:n.79G>A
ENST00000553599.5:c.-206G>A	ENSP00000452477.1:n.-206G>A
ENST00000553719.5:c.-160G>A	ENSP00000451674.1:n.-160G>A
ENST00000554131.5:c.-205G>A	ENSP00000451915.1:n.-205G>A
ENST00000555254.5:c.-188G>A	ENSP00000450652.1:n.-188G>A
ENST00000556011.5:c.-206G>A	ENSP00000451662.1:n.-206G>A
ENST00000556533.5:c.-153G>A	ENSP00000452128.1:n.-153G>A
ENST00000556864.5:c.-263G>A	ENSP00000451588.1:n.-263G>A
ENST00000556951.5:c.-160G>A	ENSP00000450551.1:n.-160G>A
ENST00000557037.5:c.-353G>A	ENSP00000451347.1:n.-353G>A
ENST00000557293.5:c.-160G>A	ENSP00000451880.1:n.-160G>A
ENST00000557356.5:c.-136+107G>A	ENSP00000451498.1:n.-136+107G>A
ENST00000559361.5:c.-160G>A	ENSP00000454156.1:n.-160G>A
ENST00000560005.6:c.-266G>A	ENSP00000453466.1:n.-266G>A
NM_000021.3:c.-164G>A	NP_000012.1:n.-164G>A
NM_007318.2:c.-164G>A	NP_015557.2:n.-164G>A
XM_005267864.1:c.-160G>A	XP_005267921.1:n.-160G>A
XM_005267866.1:c.-160G>A	XP_005267923.1:n.-160G>A
XM_005267864.3:c.-160G>A	XP_005267921.1:n.-160G>A
XM_005267866.2:c.-160G>A	XP_005267923.1:n.-160G>A
NM_000021.4:c.-164G>A MANE Select	NP_000012.1:n.-164G>A
NM_007318.3:c.-164G>A	NP_015557.2:n.-164G>A