Canonical Allele Identifier: CA390306108
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219209G>T , CM000676.2:g.73219209G>T GRCh38
NC_000014.8:g.73685917G>T , CM000676.1:g.73685917G>T GRCh37
NC_000014.7:g.72755670G>T NCBI36
NG_007386.2:g.87739G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.1312G>T ENSP00000452477.2:p.Gly438Trp
ENST00000554131.6:c.1324G>T ENSP00000451915.2:p.Gly442Trp
ENST00000554995.2:n.2074G>T
ENST00000555386.6:c.*279G>T ENSP00000450845.1:n.*279G>T
ENST00000556066.2:n.1750G>T
ENST00000556951.6:c.1312G>T ENSP00000450551.2:p.Gly438Trp
ENST00000557293.6:c.1204G>T ENSP00000451880.2:p.Gly402Trp
ENST00000559361.6:c.*1268G>T ENSP00000454156.1:n.*1268G>T
ENST00000697912.1:c.*512G>T ENSP00000513477.1:n.*512G>T
ENST00000697913.1:n.6874G>T
ENST00000697915.1:n.681G>T
ENST00000700265.1:c.1312G>T ENSP00000514901.1:p.Gly438Trp
ENST00000700266.1:c.*1536G>T ENSP00000514902.1:n.*1536G>T
ENST00000700267.1:c.1324G>T ENSP00000514903.1:p.Gly442Trp
ENST00000700268.1:c.1324G>T ENSP00000514904.1:p.Gly442Trp
ENST00000700269.1:c.1324G>T ENSP00000514905.1:p.Gly442Trp
ENST00000700271.1:c.1138G>T ENSP00000514906.1:p.Gly380Trp
ENST00000700272.1:c.*1268G>T ENSP00000514907.1:n.*1268G>T
ENST00000700273.1:c.1312G>T ENSP00000514908.1:p.Gly438Trp
ENST00000700302.1:c.*140G>T ENSP00000514929.1:n.*140G>T
ENST00000700303.1:c.*986G>T ENSP00000514930.1:n.*986G>T
ENST00000700304.1:c.*1268G>T ENSP00000514931.1:n.*1268G>T
ENST00000700305.1:c.*882G>T ENSP00000514932.1:n.*882G>T
ENST00000700306.1:c.1324G>T ENSP00000514933.1:p.Gly442Trp
ENST00000700307.1:c.1225G>T ENSP00000514934.1:p.Gly409Trp
ENST00000700308.1:c.*1268G>T ENSP00000514935.1:n.*1268G>T
ENST00000700309.1:c.*1413G>T ENSP00000514936.1:n.*1413G>T
ENST00000700310.1:c.*279G>T ENSP00000514937.1:n.*279G>T
ENST00000700311.1:c.*140G>T ENSP00000514938.1:n.*140G>T
ENST00000700312.1:c.1075G>T ENSP00000514939.1:p.Gly359Trp
ENST00000700313.1:c.1312G>T ENSP00000514940.1:p.Gly438Trp
ENST00000700314.1:c.*1263G>T ENSP00000514941.1:n.*1263G>T
ENST00000700315.1:c.*882G>T ENSP00000514942.1:n.*882G>T
ENST00000700316.1:c.*1104G>T ENSP00000514943.1:n.*1104G>T
ENST00000700317.1:c.1324G>T ENSP00000514944.1:p.Gly442Trp
ENST00000700318.1:c.*986G>T ENSP00000514945.1:n.*986G>T
ENST00000700319.1:c.*764G>T ENSP00000514946.1:n.*764G>T
ENST00000700320.1:c.1351G>T ENSP00000514947.1:p.Gly451Trp
ENST00000700321.1:c.1324G>T ENSP00000514948.1:p.Gly442Trp
ENST00000700322.1:c.1312G>T ENSP00000514949.1:p.Gly438Trp
ENST00000700323.1:c.1324G>T ENSP00000514950.1:p.Gly442Trp
ENST00000700324.1:c.1312G>T ENSP00000514951.1:p.Gly438Trp
ENST00000700375.1:c.1324G>T ENSP00000514966.1:p.Gly442Trp
ENST00000700377.1:c.*792G>T ENSP00000514967.1:n.*792G>T
ENST00000700378.1:c.1324G>T ENSP00000514968.1:p.Gly442Trp
ENST00000700379.1:n.1722G>T
ENST00000700389.1:c.1312G>T ENSP00000514970.1:p.Gly438Trp
ENST00000700390.1:n.3035G>T
ENST00000700391.1:n.535G>T
ENST00000700404.1:n.2323G>T
ENST00000700436.1:c.*279G>T ENSP00000514987.1:n.*279G>T
ENST00000700437.1:c.1075G>T ENSP00000514988.1:p.Gly359Trp
ENST00000700468.1:c.1213G>T ENSP00000515001.1:p.Gly405Trp
ENST00000700469.1:c.1312G>T ENSP00000515002.1:p.Gly438Trp
ENST00000324501.10:c.1324G>T MANE Select ENSP00000326366.5:p.Gly442Trp
ENST00000324501.9:c.1324G>T ENSP00000326366.5:p.Gly442Trp
ENST00000357710.8:c.1312G>T ENSP00000350342.4:p.Gly438Trp
ENST00000394164.5:c.1312G>T ENSP00000377719.1:p.Gly438Trp
ENST00000406768.1:c.1048G>T ENSP00000385948.1:p.Gly350Trp
ENST00000555386.5:c.1404G>T ENSP00000450845.1:n.1404G>T
ENST00000555867.1:n.689G>T
ENST00000557511.5:c.1150G>T ENSP00000451429.1:p.Gly384Trp
NM_000021.3:c.1324G>T NP_000012.1:p.Gly442Trp
NM_007318.2:c.1312G>T NP_015557.2:p.Gly438Trp
XM_005267864.1:c.1324G>T XP_005267921.1:p.Gly442Trp
XM_005267866.1:c.1312G>T XP_005267923.1:p.Gly438Trp
XM_011536971.1:c.1324G>T XP_011535273.1:p.Gly442Trp
XM_011536972.1:c.1324G>T XP_011535274.1:p.Gly442Trp
XM_011536973.1:c.1312G>T XP_011535275.1:p.Gly438Trp
XM_011536974.1:c.1312G>T XP_011535276.1:p.Gly438Trp
XM_005267864.3:c.1324G>T XP_005267921.1:p.Gly442Trp
XM_005267866.2:c.1312G>T XP_005267923.1:p.Gly438Trp
XM_011536972.2:c.1324G>T XP_011535274.1:p.Gly442Trp
XM_011536973.2:c.1312G>T XP_011535275.1:p.Gly438Trp
XM_011536974.2:c.1312G>T XP_011535276.1:p.Gly438Trp
NM_000021.4:c.1324G>T MANE Select NP_000012.1:p.Gly442Trp
NM_007318.3:c.1312G>T NP_015557.2:p.Gly438Trp