Canonical Allele Identifier: CA150766

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 120170
• ClinVar RCV Id: RCV000106293 ; RCV000625969 ; RCV003764803
• dbSNP Id: rs63750687
• MyVariant Identifiers: chr14:g.73683845C>T (hg19) ; chr14:g.73217137C>T (hg38)
• PubMed: PMID:24121961

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73217137C>T , CM000676.2:g.73217137C>T	GRCh38
NC_000014.8:g.73683845C>T , CM000676.1:g.73683845C>T	GRCh37
NC_000014.7:g.72753598C>T	NCBI36
NG_007386.2:g.85667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1129C>T	ENSP00000452477.2:p.Leu377Phe
ENST00000554131.6:c.1141C>T	ENSP00000451915.2:p.Leu381Phe
ENST00000554995.2:n.1891C>T
ENST00000555386.6:c.*96C>T	ENSP00000450845.1:n.*96C>T
ENST00000556066.2:n.1567C>T
ENST00000556951.6:c.1129C>T	ENSP00000450551.2:p.Leu377Phe
ENST00000557293.6:c.1021C>T	ENSP00000451880.2:p.Leu341Phe
ENST00000559361.6:c.*1085C>T	ENSP00000454156.1:n.*1085C>T
ENST00000697912.1:c.*329C>T	ENSP00000513477.1:n.*329C>T
ENST00000697913.1:n.6691C>T
ENST00000697915.1:n.498C>T
ENST00000700265.1:c.1129C>T	ENSP00000514901.1:p.Leu377Phe
ENST00000700266.1:c.*1353C>T	ENSP00000514902.1:n.*1353C>T
ENST00000700267.1:c.1141C>T	ENSP00000514903.1:p.Leu381Phe
ENST00000700268.1:c.1141C>T	ENSP00000514904.1:p.Leu381Phe
ENST00000700269.1:c.1141C>T	ENSP00000514905.1:p.Leu381Phe
ENST00000700271.1:c.955C>T	ENSP00000514906.1:p.Leu319Phe
ENST00000700272.1:c.*1085C>T	ENSP00000514907.1:n.*1085C>T
ENST00000700273.1:c.1129C>T	ENSP00000514908.1:p.Leu377Phe
ENST00000700302.1:c.1184C>T	ENSP00000514929.1:p.Thr395Ile
ENST00000700303.1:c.*803C>T	ENSP00000514930.1:n.*803C>T
ENST00000700304.1:c.*1085C>T	ENSP00000514931.1:n.*1085C>T
ENST00000700305.1:c.*699C>T	ENSP00000514932.1:n.*699C>T
ENST00000700306.1:c.1141C>T	ENSP00000514933.1:p.Leu381Phe
ENST00000700307.1:c.1042C>T	ENSP00000514934.1:p.Leu348Phe
ENST00000700308.1:c.*1085C>T	ENSP00000514935.1:n.*1085C>T
ENST00000700309.1:c.*1230C>T	ENSP00000514936.1:n.*1230C>T
ENST00000700310.1:c.*96C>T	ENSP00000514937.1:n.*96C>T
ENST00000700311.1:c.1184C>T	ENSP00000514938.1:p.Thr395Ile
ENST00000700312.1:c.892C>T	ENSP00000514939.1:p.Leu298Phe
ENST00000700313.1:c.1129C>T	ENSP00000514940.1:p.Leu377Phe
ENST00000700314.1:c.*1080C>T	ENSP00000514941.1:n.*1080C>T
ENST00000700315.1:c.*699C>T	ENSP00000514942.1:n.*699C>T
ENST00000700316.1:c.*921C>T	ENSP00000514943.1:n.*921C>T
ENST00000700317.1:c.1141C>T	ENSP00000514944.1:p.Leu381Phe
ENST00000700318.1:c.*803C>T	ENSP00000514945.1:n.*803C>T
ENST00000700319.1:c.*581C>T	ENSP00000514946.1:n.*581C>T
ENST00000700320.1:c.1168C>T	ENSP00000514947.1:p.Leu390Phe
ENST00000700321.1:c.1141C>T	ENSP00000514948.1:p.Leu381Phe
ENST00000700322.1:c.1129C>T	ENSP00000514949.1:p.Leu377Phe
ENST00000700323.1:c.1141C>T	ENSP00000514950.1:p.Leu381Phe
ENST00000700324.1:c.1129C>T	ENSP00000514951.1:p.Leu377Phe
ENST00000700375.1:c.1141C>T	ENSP00000514966.1:p.Leu381Phe
ENST00000700377.1:c.*609C>T	ENSP00000514967.1:n.*609C>T
ENST00000700378.1:c.1141C>T	ENSP00000514968.1:p.Leu381Phe
ENST00000700379.1:n.1539C>T
ENST00000700389.1:c.1129C>T	ENSP00000514970.1:p.Leu377Phe
ENST00000700390.1:n.2852C>T
ENST00000700391.1:n.352C>T
ENST00000700404.1:n.2140C>T
ENST00000700436.1:c.*96C>T	ENSP00000514987.1:n.*96C>T
ENST00000700437.1:c.892C>T	ENSP00000514988.1:p.Leu298Phe
ENST00000700468.1:c.1030C>T	ENSP00000515001.1:p.Leu344Phe
ENST00000700469.1:c.1129C>T	ENSP00000515002.1:p.Leu377Phe
ENST00000324501.10:c.1141C>T MANE Select	ENSP00000326366.5:p.Leu381Phe
ENST00000324501.9:c.1141C>T	ENSP00000326366.5:p.Leu381Phe
ENST00000357710.8:c.1129C>T	ENSP00000350342.4:p.Leu377Phe
ENST00000394164.5:c.1129C>T	ENSP00000377719.1:p.Leu377Phe
ENST00000406768.1:c.865C>T	ENSP00000385948.1:p.Leu289Phe
ENST00000553855.5:c.1233C>T	ENSP00000452242.1:n.1233C>T
ENST00000555386.5:c.1221C>T	ENSP00000450845.1:n.1221C>T
ENST00000555867.1:n.506C>T
ENST00000557511.5:c.967C>T	ENSP00000451429.1:p.Leu323Phe
NM_000021.3:c.1141C>T	NP_000012.1:p.Leu381Phe
NM_007318.2:c.1129C>T	NP_015557.2:p.Leu377Phe
XM_005267864.1:c.1141C>T	XP_005267921.1:p.Leu381Phe
XM_005267866.1:c.1129C>T	XP_005267923.1:p.Leu377Phe
XM_011536971.1:c.1141C>T	XP_011535273.1:p.Leu381Phe
XM_011536972.1:c.1141C>T	XP_011535274.1:p.Leu381Phe
XM_011536973.1:c.1129C>T	XP_011535275.1:p.Leu377Phe
XM_011536974.1:c.1129C>T	XP_011535276.1:p.Leu377Phe
XM_005267864.3:c.1141C>T	XP_005267921.1:p.Leu381Phe
XM_005267866.2:c.1129C>T	XP_005267923.1:p.Leu377Phe
XM_011536972.2:c.1141C>T	XP_011535274.1:p.Leu381Phe
XM_011536973.2:c.1129C>T	XP_011535275.1:p.Leu377Phe
XM_011536974.2:c.1129C>T	XP_011535276.1:p.Leu377Phe
NM_000021.4:c.1141C>T MANE Select	NP_000012.1:p.Leu381Phe
NM_007318.3:c.1129C>T	NP_015557.2:p.Leu377Phe