Canonical Allele Identifier: CA390301959

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 448146
• ClinVar RCV Id: RCV000516919 ; RCV003480665
• dbSNP Id: rs63751229
• MyVariant Identifiers: chr14:g.73664768C>G (hg19) ; chr14:g.73198060C>G (hg38)
• PubMed: PMID:26888304

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73198060C>G , CM000676.2:g.73198060C>G	GRCh38
NC_000014.8:g.73664768C>G , CM000676.1:g.73664768C>G	GRCh37
NC_000014.7:g.72734521C>G	NCBI36
NG_007386.2:g.66590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.787C>G	ENSP00000452477.2:p.Pro263Ala
ENST00000554131.6:c.799C>G	ENSP00000451915.2:p.Pro267Ala
ENST00000554995.2:n.1549C>G
ENST00000555386.6:c.787C>G	ENSP00000450845.1:p.Pro263Ala
ENST00000556066.2:n.1225C>G
ENST00000556951.6:c.787C>G	ENSP00000450551.2:p.Pro263Ala
ENST00000557293.6:c.679C>G	ENSP00000451880.2:p.Pro227Ala
ENST00000559361.6:c.*743C>G	ENSP00000454156.1:n.*743C>G
ENST00000697912.1:c.787C>G	ENSP00000513477.1:p.Pro263Ala
ENST00000697913.1:n.1053C>G
ENST00000700265.1:c.787C>G	ENSP00000514901.1:p.Pro263Ala
ENST00000700266.1:c.*1011C>G	ENSP00000514902.1:n.*1011C>G
ENST00000700267.1:c.799C>G	ENSP00000514903.1:p.Pro267Ala
ENST00000700268.1:c.799C>G	ENSP00000514904.1:p.Pro267Ala
ENST00000700269.1:c.799C>G	ENSP00000514905.1:p.Pro267Ala
ENST00000700270.1:n.1055C>G
ENST00000700271.1:c.787C>G	ENSP00000514906.1:p.Pro263Ala
ENST00000700272.1:c.*743C>G	ENSP00000514907.1:n.*743C>G
ENST00000700273.1:c.787C>G	ENSP00000514908.1:p.Pro263Ala
ENST00000700302.1:c.799C>G	ENSP00000514929.1:p.Pro267Ala
ENST00000700303.1:c.*461C>G	ENSP00000514930.1:n.*461C>G
ENST00000700304.1:c.*743C>G	ENSP00000514931.1:n.*743C>G
ENST00000700305.1:c.*357C>G	ENSP00000514932.1:n.*357C>G
ENST00000700306.1:c.799C>G	ENSP00000514933.1:p.Pro267Ala
ENST00000700307.1:c.769+5196C>G	ENSP00000514934.1:n.769+5196C>G
ENST00000700308.1:c.*743C>G	ENSP00000514935.1:n.*743C>G
ENST00000700309.1:c.*888C>G	ENSP00000514936.1:n.*888C>G
ENST00000700310.1:c.757+5196C>G	ENSP00000514937.1:n.757+5196C>G
ENST00000700311.1:c.799C>G	ENSP00000514938.1:p.Pro267Ala
ENST00000700312.1:c.550C>G	ENSP00000514939.1:p.Pro184Ala
ENST00000700313.1:c.787C>G	ENSP00000514940.1:p.Pro263Ala
ENST00000700314.1:c.*738C>G	ENSP00000514941.1:n.*738C>G
ENST00000700315.1:c.*357C>G	ENSP00000514942.1:n.*357C>G
ENST00000700316.1:c.*579C>G	ENSP00000514943.1:n.*579C>G
ENST00000700317.1:c.799C>G	ENSP00000514944.1:p.Pro267Ala
ENST00000700318.1:c.*461C>G	ENSP00000514945.1:n.*461C>G
ENST00000700319.1:c.*239C>G	ENSP00000514946.1:n.*239C>G
ENST00000700320.1:c.826C>G	ENSP00000514947.1:p.Pro276Ala
ENST00000700321.1:c.799C>G	ENSP00000514948.1:p.Pro267Ala
ENST00000700322.1:c.787C>G	ENSP00000514949.1:p.Pro263Ala
ENST00000700323.1:c.799C>G	ENSP00000514950.1:p.Pro267Ala
ENST00000700324.1:c.787C>G	ENSP00000514951.1:p.Pro263Ala
ENST00000700375.1:c.799C>G	ENSP00000514966.1:p.Pro267Ala
ENST00000700377.1:c.*267C>G	ENSP00000514967.1:n.*267C>G
ENST00000700378.1:c.799C>G	ENSP00000514968.1:p.Pro267Ala
ENST00000700379.1:n.1197C>G
ENST00000700389.1:c.787C>G	ENSP00000514970.1:p.Pro263Ala
ENST00000700390.1:n.2510C>G
ENST00000700404.1:n.1798C>G
ENST00000700433.1:n.1050C>G
ENST00000700434.1:n.1052C>G
ENST00000700435.1:n.934C>G
ENST00000700436.1:c.799C>G	ENSP00000514987.1:p.Pro267Ala
ENST00000700437.1:c.550C>G	ENSP00000514988.1:p.Pro184Ala
ENST00000700467.1:n.1056C>G
ENST00000700468.1:c.757+5196C>G	ENSP00000515001.1:n.757+5196C>G
ENST00000700469.1:c.787C>G	ENSP00000515002.1:p.Pro263Ala
ENST00000324501.10:c.799C>G MANE Select	ENSP00000326366.5:p.Pro267Ala
ENST00000324501.9:c.799C>G	ENSP00000326366.5:p.Pro267Ala
ENST00000357710.8:c.787C>G	ENSP00000350342.4:p.Pro263Ala
ENST00000394164.5:c.787C>G	ENSP00000377719.1:p.Pro263Ala
ENST00000406768.1:c.523C>G	ENSP00000385948.1:p.Pro175Ala
ENST00000553855.5:c.799C>G	ENSP00000452242.1:p.Pro267Ala
ENST00000554995.1:n.351C>G
ENST00000555386.5:c.787C>G	ENSP00000450845.1:p.Pro263Ala
ENST00000557511.5:c.799C>G	ENSP00000451429.1:p.Pro267Ala
NM_000021.3:c.799C>G	NP_000012.1:p.Pro267Ala
NM_007318.2:c.787C>G	NP_015557.2:p.Pro263Ala
XM_005267864.1:c.799C>G	XP_005267921.1:p.Pro267Ala
XM_005267866.1:c.787C>G	XP_005267923.1:p.Pro263Ala
XM_011536971.1:c.799C>G	XP_011535273.1:p.Pro267Ala
XM_011536972.1:c.799C>G	XP_011535274.1:p.Pro267Ala
XM_011536973.1:c.787C>G	XP_011535275.1:p.Pro263Ala
XM_011536974.1:c.787C>G	XP_011535276.1:p.Pro263Ala
XM_005267864.3:c.799C>G	XP_005267921.1:p.Pro267Ala
XM_005267866.2:c.787C>G	XP_005267923.1:p.Pro263Ala
XM_011536972.2:c.799C>G	XP_011535274.1:p.Pro267Ala
XM_011536973.2:c.787C>G	XP_011535275.1:p.Pro263Ala
XM_011536974.2:c.787C>G	XP_011535276.1:p.Pro263Ala
NM_000021.4:c.799C>G MANE Select	NP_000012.1:p.Pro267Ala
NM_007318.3:c.787C>G	NP_015557.2:p.Pro263Ala