Canonical Allele Identifier: CA127837

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 18132
• ClinVar RCV Id: RCV000019760 ; RCV000019761 ; RCV000084381 ; RCV002513125
• dbSNP Id: rs63750231
• gnomAD v4: 14-73198100-A-G
• MyVariant Identifiers: chr14:g.73664808A>G (hg19) ; chr14:g.73198100A>G (hg38)
• PubMed: PMID:7550356 ; PMID:11524469 ; PMID:12370477 ; PMID:14557582

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73198100A>G , CM000676.2:g.73198100A>G	GRCh38
NC_000014.8:g.73664808A>G , CM000676.1:g.73664808A>G	GRCh37
NC_000014.7:g.72734561A>G	NCBI36
NG_007386.2:g.66630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.827A>G	ENSP00000452477.2:p.Glu276Gly
ENST00000554131.6:c.839A>G	ENSP00000451915.2:p.Glu280Gly
ENST00000554995.2:n.1589A>G
ENST00000555386.6:c.827A>G	ENSP00000450845.1:p.Glu276Gly
ENST00000556066.2:n.1265A>G
ENST00000556951.6:c.827A>G	ENSP00000450551.2:p.Glu276Gly
ENST00000557293.6:c.719A>G	ENSP00000451880.2:p.Glu240Gly
ENST00000559361.6:c.*783A>G	ENSP00000454156.1:n.*783A>G
ENST00000697912.1:c.827A>G	ENSP00000513477.1:p.Glu276Gly
ENST00000697913.1:n.1093A>G
ENST00000700265.1:c.827A>G	ENSP00000514901.1:p.Glu276Gly
ENST00000700266.1:c.*1051A>G	ENSP00000514902.1:n.*1051A>G
ENST00000700267.1:c.839A>G	ENSP00000514903.1:p.Glu280Gly
ENST00000700268.1:c.839A>G	ENSP00000514904.1:p.Glu280Gly
ENST00000700269.1:c.839A>G	ENSP00000514905.1:p.Glu280Gly
ENST00000700270.1:n.1095A>G
ENST00000700271.1:c.827A>G	ENSP00000514906.1:p.Glu276Gly
ENST00000700272.1:c.*783A>G	ENSP00000514907.1:n.*783A>G
ENST00000700273.1:c.827A>G	ENSP00000514908.1:p.Glu276Gly
ENST00000700302.1:c.839A>G	ENSP00000514929.1:p.Glu280Gly
ENST00000700303.1:c.*501A>G	ENSP00000514930.1:n.*501A>G
ENST00000700304.1:c.*783A>G	ENSP00000514931.1:n.*783A>G
ENST00000700305.1:c.*397A>G	ENSP00000514932.1:n.*397A>G
ENST00000700306.1:c.839A>G	ENSP00000514933.1:p.Glu280Gly
ENST00000700307.1:c.769+5236A>G	ENSP00000514934.1:n.769+5236A>G
ENST00000700308.1:c.*783A>G	ENSP00000514935.1:n.*783A>G
ENST00000700309.1:c.*928A>G	ENSP00000514936.1:n.*928A>G
ENST00000700310.1:c.757+5236A>G	ENSP00000514937.1:n.757+5236A>G
ENST00000700311.1:c.839A>G	ENSP00000514938.1:p.Glu280Gly
ENST00000700312.1:c.590A>G	ENSP00000514939.1:p.Glu197Gly
ENST00000700313.1:c.827A>G	ENSP00000514940.1:p.Glu276Gly
ENST00000700314.1:c.*778A>G	ENSP00000514941.1:n.*778A>G
ENST00000700315.1:c.*397A>G	ENSP00000514942.1:n.*397A>G
ENST00000700316.1:c.*619A>G	ENSP00000514943.1:n.*619A>G
ENST00000700317.1:c.839A>G	ENSP00000514944.1:p.Glu280Gly
ENST00000700318.1:c.*501A>G	ENSP00000514945.1:n.*501A>G
ENST00000700319.1:c.*279A>G	ENSP00000514946.1:n.*279A>G
ENST00000700320.1:c.866A>G	ENSP00000514947.1:p.Glu289Gly
ENST00000700321.1:c.839A>G	ENSP00000514948.1:p.Glu280Gly
ENST00000700322.1:c.827A>G	ENSP00000514949.1:p.Glu276Gly
ENST00000700323.1:c.839A>G	ENSP00000514950.1:p.Glu280Gly
ENST00000700324.1:c.827A>G	ENSP00000514951.1:p.Glu276Gly
ENST00000700375.1:c.839A>G	ENSP00000514966.1:p.Glu280Gly
ENST00000700377.1:c.*307A>G	ENSP00000514967.1:n.*307A>G
ENST00000700378.1:c.839A>G	ENSP00000514968.1:p.Glu280Gly
ENST00000700379.1:n.1237A>G
ENST00000700389.1:c.827A>G	ENSP00000514970.1:p.Glu276Gly
ENST00000700390.1:n.2550A>G
ENST00000700404.1:n.1838A>G
ENST00000700433.1:n.1090A>G
ENST00000700434.1:n.1092A>G
ENST00000700435.1:n.974A>G
ENST00000700436.1:c.839A>G	ENSP00000514987.1:p.Glu280Gly
ENST00000700437.1:c.590A>G	ENSP00000514988.1:p.Glu197Gly
ENST00000700467.1:n.1096A>G
ENST00000700468.1:c.757+5236A>G	ENSP00000515001.1:n.757+5236A>G
ENST00000700469.1:c.827A>G	ENSP00000515002.1:p.Glu276Gly
ENST00000324501.10:c.839A>G MANE Select	ENSP00000326366.5:p.Glu280Gly
ENST00000324501.9:c.839A>G	ENSP00000326366.5:p.Glu280Gly
ENST00000357710.8:c.827A>G	ENSP00000350342.4:p.Glu276Gly
ENST00000394164.5:c.827A>G	ENSP00000377719.1:p.Glu276Gly
ENST00000406768.1:c.563A>G	ENSP00000385948.1:p.Glu188Gly
ENST00000553855.5:c.839A>G	ENSP00000452242.1:p.Glu280Gly
ENST00000554995.1:n.391A>G
ENST00000555386.5:c.827A>G	ENSP00000450845.1:p.Glu276Gly
ENST00000557511.5:c.839A>G	ENSP00000451429.1:p.Glu280Gly
NM_000021.3:c.839A>G	NP_000012.1:p.Glu280Gly
NM_007318.2:c.827A>G	NP_015557.2:p.Glu276Gly
XM_005267864.1:c.839A>G	XP_005267921.1:p.Glu280Gly
XM_005267866.1:c.827A>G	XP_005267923.1:p.Glu276Gly
XM_011536971.1:c.839A>G	XP_011535273.1:p.Glu280Gly
XM_011536972.1:c.839A>G	XP_011535274.1:p.Glu280Gly
XM_011536973.1:c.827A>G	XP_011535275.1:p.Glu276Gly
XM_011536974.1:c.827A>G	XP_011535276.1:p.Glu276Gly
XM_005267864.3:c.839A>G	XP_005267921.1:p.Glu280Gly
XM_005267866.2:c.827A>G	XP_005267923.1:p.Glu276Gly
XM_011536972.2:c.839A>G	XP_011535274.1:p.Glu280Gly
XM_011536973.2:c.827A>G	XP_011535275.1:p.Glu276Gly
XM_011536974.2:c.827A>G	XP_011535276.1:p.Glu276Gly
NM_000021.4:c.839A>G MANE Select	NP_000012.1:p.Glu280Gly
NM_007318.3:c.827A>G	NP_015557.2:p.Glu276Gly