Canonical Allele Identifier: CA390306083
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219198C>A , CM000676.2:g.73219198C>A GRCh38
NC_000014.8:g.73685906C>A , CM000676.1:g.73685906C>A GRCh37
NC_000014.7:g.72755659C>A NCBI36
NG_007386.2:g.87728C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.1301C>A ENSP00000452477.2:p.Ser434Tyr
ENST00000554131.6:c.1313C>A ENSP00000451915.2:p.Ser438Tyr
ENST00000554995.2:n.2063C>A
ENST00000555386.6:c.*268C>A ENSP00000450845.1:n.*268C>A
ENST00000556066.2:n.1739C>A
ENST00000556951.6:c.1301C>A ENSP00000450551.2:p.Ser434Tyr
ENST00000557293.6:c.1193C>A ENSP00000451880.2:p.Ser398Tyr
ENST00000559361.6:c.*1257C>A ENSP00000454156.1:n.*1257C>A
ENST00000697912.1:c.*501C>A ENSP00000513477.1:n.*501C>A
ENST00000697913.1:n.6863C>A
ENST00000697915.1:n.670C>A
ENST00000700265.1:c.1301C>A ENSP00000514901.1:p.Ser434Tyr
ENST00000700266.1:c.*1525C>A ENSP00000514902.1:n.*1525C>A
ENST00000700267.1:c.1313C>A ENSP00000514903.1:p.Ser438Tyr
ENST00000700268.1:c.1313C>A ENSP00000514904.1:p.Ser438Tyr
ENST00000700269.1:c.1313C>A ENSP00000514905.1:p.Ser438Tyr
ENST00000700271.1:c.1127C>A ENSP00000514906.1:p.Ser376Tyr
ENST00000700272.1:c.*1257C>A ENSP00000514907.1:n.*1257C>A
ENST00000700273.1:c.1301C>A ENSP00000514908.1:p.Ser434Tyr
ENST00000700302.1:c.*129C>A ENSP00000514929.1:n.*129C>A
ENST00000700303.1:c.*975C>A ENSP00000514930.1:n.*975C>A
ENST00000700304.1:c.*1257C>A ENSP00000514931.1:n.*1257C>A
ENST00000700305.1:c.*871C>A ENSP00000514932.1:n.*871C>A
ENST00000700306.1:c.1313C>A ENSP00000514933.1:p.Ser438Tyr
ENST00000700307.1:c.1214C>A ENSP00000514934.1:p.Ser405Tyr
ENST00000700308.1:c.*1257C>A ENSP00000514935.1:n.*1257C>A
ENST00000700309.1:c.*1402C>A ENSP00000514936.1:n.*1402C>A
ENST00000700310.1:c.*268C>A ENSP00000514937.1:n.*268C>A
ENST00000700311.1:c.*129C>A ENSP00000514938.1:n.*129C>A
ENST00000700312.1:c.1064C>A ENSP00000514939.1:p.Ser355Tyr
ENST00000700313.1:c.1301C>A ENSP00000514940.1:p.Ser434Tyr
ENST00000700314.1:c.*1252C>A ENSP00000514941.1:n.*1252C>A
ENST00000700315.1:c.*871C>A ENSP00000514942.1:n.*871C>A
ENST00000700316.1:c.*1093C>A ENSP00000514943.1:n.*1093C>A
ENST00000700317.1:c.1313C>A ENSP00000514944.1:p.Ser438Tyr
ENST00000700318.1:c.*975C>A ENSP00000514945.1:n.*975C>A
ENST00000700319.1:c.*753C>A ENSP00000514946.1:n.*753C>A
ENST00000700320.1:c.1340C>A ENSP00000514947.1:p.Ser447Tyr
ENST00000700321.1:c.1313C>A ENSP00000514948.1:p.Ser438Tyr
ENST00000700322.1:c.1301C>A ENSP00000514949.1:p.Ser434Tyr
ENST00000700323.1:c.1313C>A ENSP00000514950.1:p.Ser438Tyr
ENST00000700324.1:c.1301C>A ENSP00000514951.1:p.Ser434Tyr
ENST00000700375.1:c.1313C>A ENSP00000514966.1:p.Ser438Tyr
ENST00000700377.1:c.*781C>A ENSP00000514967.1:n.*781C>A
ENST00000700378.1:c.1313C>A ENSP00000514968.1:p.Ser438Tyr
ENST00000700379.1:n.1711C>A
ENST00000700389.1:c.1301C>A ENSP00000514970.1:p.Ser434Tyr
ENST00000700390.1:n.3024C>A
ENST00000700391.1:n.524C>A
ENST00000700404.1:n.2312C>A
ENST00000700436.1:c.*268C>A ENSP00000514987.1:n.*268C>A
ENST00000700437.1:c.1064C>A ENSP00000514988.1:p.Ser355Tyr
ENST00000700468.1:c.1202C>A ENSP00000515001.1:p.Ser401Tyr
ENST00000700469.1:c.1301C>A ENSP00000515002.1:p.Ser434Tyr
ENST00000324501.10:c.1313C>A MANE Select ENSP00000326366.5:p.Ser438Tyr
ENST00000324501.9:c.1313C>A ENSP00000326366.5:p.Ser438Tyr
ENST00000357710.8:c.1301C>A ENSP00000350342.4:p.Ser434Tyr
ENST00000394164.5:c.1301C>A ENSP00000377719.1:p.Ser434Tyr
ENST00000406768.1:c.1037C>A ENSP00000385948.1:p.Ser346Tyr
ENST00000555386.5:c.1393C>A ENSP00000450845.1:n.1393C>A
ENST00000555867.1:n.678C>A
ENST00000557511.5:c.1139C>A ENSP00000451429.1:p.Ser380Tyr
NM_000021.3:c.1313C>A NP_000012.1:p.Ser438Tyr
NM_007318.2:c.1301C>A NP_015557.2:p.Ser434Tyr
XM_005267864.1:c.1313C>A XP_005267921.1:p.Ser438Tyr
XM_005267866.1:c.1301C>A XP_005267923.1:p.Ser434Tyr
XM_011536971.1:c.1313C>A XP_011535273.1:p.Ser438Tyr
XM_011536972.1:c.1313C>A XP_011535274.1:p.Ser438Tyr
XM_011536973.1:c.1301C>A XP_011535275.1:p.Ser434Tyr
XM_011536974.1:c.1301C>A XP_011535276.1:p.Ser434Tyr
XM_005267864.3:c.1313C>A XP_005267921.1:p.Ser438Tyr
XM_005267866.2:c.1301C>A XP_005267923.1:p.Ser434Tyr
XM_011536972.2:c.1313C>A XP_011535274.1:p.Ser438Tyr
XM_011536973.2:c.1301C>A XP_011535275.1:p.Ser434Tyr
XM_011536974.2:c.1301C>A XP_011535276.1:p.Ser434Tyr
NM_000021.4:c.1313C>A MANE Select NP_000012.1:p.Ser438Tyr
NM_007318.3:c.1301C>A NP_015557.2:p.Ser434Tyr