Canonical Allele Identifier: CA390305090
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs2140125304

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73206474T>C , CM000676.2:g.73206474T>C GRCh38
NC_000014.8:g.73673182T>C , CM000676.1:g.73673182T>C GRCh37
NC_000014.7:g.72742935T>C NCBI36
NG_007386.2:g.75004T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.943+2T>C ENSP00000452477.2:n.943+2T>C
ENST00000554131.6:c.955+2T>C ENSP00000451915.2:n.955+2T>C
ENST00000554995.2:n.1705+2T>C
ENST00000555386.6:c.943+2T>C ENSP00000450845.1:n.943+2T>C
ENST00000556066.2:n.1381+2T>C
ENST00000556951.6:c.943+2T>C ENSP00000450551.2:n.943+2T>C
ENST00000557293.6:c.835+2T>C ENSP00000451880.2:n.835+2T>C
ENST00000559361.6:c.*899+2T>C ENSP00000454156.1:n.*899+2T>C
ENST00000697912.1:c.943+2T>C ENSP00000513477.1:n.943+2T>C
ENST00000697913.1:n.1211T>C
ENST00000700265.1:c.943+2T>C ENSP00000514901.1:n.943+2T>C
ENST00000700266.1:c.*1167+2T>C ENSP00000514902.1:n.*1167+2T>C
ENST00000700267.1:c.955+2T>C ENSP00000514903.1:n.955+2T>C
ENST00000700268.1:c.955+2T>C ENSP00000514904.1:n.955+2T>C
ENST00000700269.1:c.955+2T>C ENSP00000514905.1:n.955+2T>C
ENST00000700270.1:n.1213T>C
ENST00000700271.1:c.943+2T>C ENSP00000514906.1:n.943+2T>C
ENST00000700272.1:c.*899+2T>C ENSP00000514907.1:n.*899+2T>C
ENST00000700273.1:c.943+2T>C ENSP00000514908.1:n.943+2T>C
ENST00000700302.1:c.955+2T>C ENSP00000514929.1:n.955+2T>C
ENST00000700303.1:c.*617+2T>C ENSP00000514930.1:n.*617+2T>C
ENST00000700304.1:c.*899+2T>C ENSP00000514931.1:n.*899+2T>C
ENST00000700305.1:c.*513+2T>C ENSP00000514932.1:n.*513+2T>C
ENST00000700306.1:c.955+2T>C ENSP00000514933.1:n.955+2T>C
ENST00000700307.1:c.856+2T>C ENSP00000514934.1:n.856+2T>C
ENST00000700308.1:c.*899+2T>C ENSP00000514935.1:n.*899+2T>C
ENST00000700309.1:c.*1044+2T>C ENSP00000514936.1:n.*1044+2T>C
ENST00000700310.1:c.844+2T>C ENSP00000514937.1:n.844+2T>C
ENST00000700311.1:c.955+2T>C ENSP00000514938.1:n.955+2T>C
ENST00000700312.1:c.706+2T>C ENSP00000514939.1:n.706+2T>C
ENST00000700313.1:c.943+2T>C ENSP00000514940.1:n.943+2T>C
ENST00000700314.1:c.*894+2T>C ENSP00000514941.1:n.*894+2T>C
ENST00000700315.1:c.*513+2T>C ENSP00000514942.1:n.*513+2T>C
ENST00000700316.1:c.*735+2T>C ENSP00000514943.1:n.*735+2T>C
ENST00000700317.1:c.955+2T>C ENSP00000514944.1:n.955+2T>C
ENST00000700318.1:c.*617+2T>C ENSP00000514945.1:n.*617+2T>C
ENST00000700319.1:c.*395+2T>C ENSP00000514946.1:n.*395+2T>C
ENST00000700320.1:c.982+2T>C ENSP00000514947.1:n.982+2T>C
ENST00000700321.1:c.955+2T>C ENSP00000514948.1:n.955+2T>C
ENST00000700322.1:c.943+2T>C ENSP00000514949.1:n.943+2T>C
ENST00000700323.1:c.955+2T>C ENSP00000514950.1:n.955+2T>C
ENST00000700324.1:c.943+2T>C ENSP00000514951.1:n.943+2T>C
ENST00000700375.1:c.955+2T>C ENSP00000514966.1:n.955+2T>C
ENST00000700377.1:c.*423+2T>C ENSP00000514967.1:n.*423+2T>C
ENST00000700378.1:c.955+2T>C ENSP00000514968.1:n.955+2T>C
ENST00000700379.1:n.1353+2T>C
ENST00000700389.1:c.943+2T>C ENSP00000514970.1:n.943+2T>C
ENST00000700390.1:n.2666+2T>C
ENST00000700391.1:n.166+2T>C
ENST00000700404.1:n.1954+2T>C
ENST00000700433.1:n.1208T>C
ENST00000700434.1:n.1210T>C
ENST00000700435.1:n.1090+2T>C
ENST00000700436.1:c.955+2T>C ENSP00000514987.1:n.955+2T>C
ENST00000700437.1:c.706+2T>C ENSP00000514988.1:n.706+2T>C
ENST00000700467.1:n.1214T>C
ENST00000700468.1:c.844+2T>C ENSP00000515001.1:n.844+2T>C
ENST00000700469.1:c.943+2T>C ENSP00000515002.1:n.943+2T>C
ENST00000324501.10:c.955+2T>C MANE Select ENSP00000326366.5:n.955+2T>C
ENST00000324501.9:c.955+2T>C ENSP00000326366.5:n.955+2T>C
ENST00000357710.8:c.943+2T>C ENSP00000350342.4:n.943+2T>C
ENST00000394164.5:c.943+2T>C ENSP00000377719.1:n.943+2T>C
ENST00000406768.1:c.679+2T>C ENSP00000385948.1:n.679+2T>C
ENST00000553855.5:c.955+2T>C ENSP00000452242.1:n.955+2T>C
ENST00000554995.1:n.507+2T>C
ENST00000555386.5:c.943+2T>C ENSP00000450845.1:n.943+2T>C
ENST00000555867.1:n.320+2T>C
ENST00000557511.5:c.955+2T>C ENSP00000451429.1:n.955+2T>C
NM_000021.3:c.955+2T>C NP_000012.1:n.955+2T>C
NM_007318.2:c.943+2T>C NP_015557.2:n.943+2T>C
XM_005267864.1:c.955+2T>C XP_005267921.1:n.955+2T>C
XM_005267866.1:c.943+2T>C XP_005267923.1:n.943+2T>C
XM_011536971.1:c.955+2T>C XP_011535273.1:n.955+2T>C
XM_011536972.1:c.955+2T>C XP_011535274.1:n.955+2T>C
XM_011536973.1:c.943+2T>C XP_011535275.1:n.943+2T>C
XM_011536974.1:c.943+2T>C XP_011535276.1:n.943+2T>C
XM_005267864.3:c.955+2T>C XP_005267921.1:n.955+2T>C
XM_005267866.2:c.943+2T>C XP_005267923.1:n.943+2T>C
XM_011536972.2:c.955+2T>C XP_011535274.1:n.955+2T>C
XM_011536973.2:c.943+2T>C XP_011535275.1:n.943+2T>C
XM_011536974.2:c.943+2T>C XP_011535276.1:n.943+2T>C
NM_000021.4:c.955+2T>C MANE Select NP_000012.1:n.955+2T>C
NM_007318.3:c.943+2T>C NP_015557.2:n.943+2T>C