Canonical Allele Identifier: CA225168

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 21026
• ClinVar RCV Id: RCV000020082 ; RCV000084403 ; RCV002514122
• dbSNP Id: rs63750218
• MyVariant Identifiers: chr14:g.73683879T>C (hg19) ; chr14:g.73217171T>C (hg38)
• PubMed: PMID:11094128 ; PMID:20301414

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73217171T>C , CM000676.2:g.73217171T>C	GRCh38
NC_000014.8:g.73683879T>C , CM000676.1:g.73683879T>C	GRCh37
NC_000014.7:g.72753632T>C	NCBI36
NG_007386.2:g.85701T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.1163T>C	ENSP00000452477.2:p.Leu388Pro
ENST00000554131.6:c.1175T>C	ENSP00000451915.2:p.Leu392Pro
ENST00000554995.2:n.1925T>C
ENST00000555386.6:c.*130T>C	ENSP00000450845.1:n.*130T>C
ENST00000556066.2:n.1601T>C
ENST00000556951.6:c.1163T>C	ENSP00000450551.2:p.Leu388Pro
ENST00000557293.6:c.1055T>C	ENSP00000451880.2:p.Leu352Pro
ENST00000559361.6:c.*1119T>C	ENSP00000454156.1:n.*1119T>C
ENST00000697912.1:c.*363T>C	ENSP00000513477.1:n.*363T>C
ENST00000697913.1:n.6725T>C
ENST00000697915.1:n.532T>C
ENST00000700265.1:c.1163T>C	ENSP00000514901.1:p.Leu388Pro
ENST00000700266.1:c.*1387T>C	ENSP00000514902.1:n.*1387T>C
ENST00000700267.1:c.1175T>C	ENSP00000514903.1:p.Leu392Pro
ENST00000700268.1:c.1175T>C	ENSP00000514904.1:p.Leu392Pro
ENST00000700269.1:c.1175T>C	ENSP00000514905.1:p.Leu392Pro
ENST00000700271.1:c.989T>C	ENSP00000514906.1:p.Leu330Pro
ENST00000700272.1:c.*1119T>C	ENSP00000514907.1:n.*1119T>C
ENST00000700273.1:c.1163T>C	ENSP00000514908.1:p.Leu388Pro
ENST00000700302.1:c.1218T>C	ENSP00000514929.1:p.Ser406=
ENST00000700303.1:c.*837T>C	ENSP00000514930.1:n.*837T>C
ENST00000700304.1:c.*1119T>C	ENSP00000514931.1:n.*1119T>C
ENST00000700305.1:c.*733T>C	ENSP00000514932.1:n.*733T>C
ENST00000700306.1:c.1175T>C	ENSP00000514933.1:p.Leu392Pro
ENST00000700307.1:c.1076T>C	ENSP00000514934.1:p.Leu359Pro
ENST00000700308.1:c.*1119T>C	ENSP00000514935.1:n.*1119T>C
ENST00000700309.1:c.*1264T>C	ENSP00000514936.1:n.*1264T>C
ENST00000700310.1:c.*130T>C	ENSP00000514937.1:n.*130T>C
ENST00000700311.1:c.1218T>C	ENSP00000514938.1:p.Ser406=
ENST00000700312.1:c.926T>C	ENSP00000514939.1:p.Leu309Pro
ENST00000700313.1:c.1163T>C	ENSP00000514940.1:p.Leu388Pro
ENST00000700314.1:c.*1114T>C	ENSP00000514941.1:n.*1114T>C
ENST00000700315.1:c.*733T>C	ENSP00000514942.1:n.*733T>C
ENST00000700316.1:c.*955T>C	ENSP00000514943.1:n.*955T>C
ENST00000700317.1:c.1175T>C	ENSP00000514944.1:p.Leu392Pro
ENST00000700318.1:c.*837T>C	ENSP00000514945.1:n.*837T>C
ENST00000700319.1:c.*615T>C	ENSP00000514946.1:n.*615T>C
ENST00000700320.1:c.1202T>C	ENSP00000514947.1:p.Leu401Pro
ENST00000700321.1:c.1175T>C	ENSP00000514948.1:p.Leu392Pro
ENST00000700322.1:c.1163T>C	ENSP00000514949.1:p.Leu388Pro
ENST00000700323.1:c.1175T>C	ENSP00000514950.1:p.Leu392Pro
ENST00000700324.1:c.1163T>C	ENSP00000514951.1:p.Leu388Pro
ENST00000700375.1:c.1175T>C	ENSP00000514966.1:p.Leu392Pro
ENST00000700377.1:c.*643T>C	ENSP00000514967.1:n.*643T>C
ENST00000700378.1:c.1175T>C	ENSP00000514968.1:p.Leu392Pro
ENST00000700379.1:n.1573T>C
ENST00000700389.1:c.1163T>C	ENSP00000514970.1:p.Leu388Pro
ENST00000700390.1:n.2886T>C
ENST00000700391.1:n.386T>C
ENST00000700404.1:n.2174T>C
ENST00000700436.1:c.*130T>C	ENSP00000514987.1:n.*130T>C
ENST00000700437.1:c.926T>C	ENSP00000514988.1:p.Leu309Pro
ENST00000700468.1:c.1064T>C	ENSP00000515001.1:p.Leu355Pro
ENST00000700469.1:c.1163T>C	ENSP00000515002.1:p.Leu388Pro
ENST00000324501.10:c.1175T>C MANE Select	ENSP00000326366.5:p.Leu392Pro
ENST00000324501.9:c.1175T>C	ENSP00000326366.5:p.Leu392Pro
ENST00000357710.8:c.1163T>C	ENSP00000350342.4:p.Leu388Pro
ENST00000394164.5:c.1163T>C	ENSP00000377719.1:p.Leu388Pro
ENST00000406768.1:c.899T>C	ENSP00000385948.1:p.Leu300Pro
ENST00000555386.5:c.1255T>C	ENSP00000450845.1:n.1255T>C
ENST00000555867.1:n.540T>C
ENST00000557511.5:c.1001T>C	ENSP00000451429.1:p.Leu334Pro
NM_000021.3:c.1175T>C	NP_000012.1:p.Leu392Pro
NM_007318.2:c.1163T>C	NP_015557.2:p.Leu388Pro
XM_005267864.1:c.1175T>C	XP_005267921.1:p.Leu392Pro
XM_005267866.1:c.1163T>C	XP_005267923.1:p.Leu388Pro
XM_011536971.1:c.1175T>C	XP_011535273.1:p.Leu392Pro
XM_011536972.1:c.1175T>C	XP_011535274.1:p.Leu392Pro
XM_011536973.1:c.1163T>C	XP_011535275.1:p.Leu388Pro
XM_011536974.1:c.1163T>C	XP_011535276.1:p.Leu388Pro
XM_005267864.3:c.1175T>C	XP_005267921.1:p.Leu392Pro
XM_005267866.2:c.1163T>C	XP_005267923.1:p.Leu388Pro
XM_011536972.2:c.1175T>C	XP_011535274.1:p.Leu392Pro
XM_011536973.2:c.1163T>C	XP_011535275.1:p.Leu388Pro
XM_011536974.2:c.1163T>C	XP_011535276.1:p.Leu388Pro
NM_000021.4:c.1175T>C MANE Select	NP_000012.1:p.Leu392Pro
NM_007318.3:c.1163T>C	NP_015557.2:p.Leu388Pro