Canonical Allele Identifier: CA487099635
Gene: PSEN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.73685913C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219205C>T , CM000676.2:g.73219205C>T GRCh38
NC_000014.8:g.73685913C>T , CM000676.1:g.73685913C>T GRCh37
NC_000014.7:g.72755666C>T NCBI36
NG_007386.2:g.87735C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.1308C>T ENSP00000452477.2:p.Thr436=
ENST00000554131.6:c.1320C>T ENSP00000451915.2:p.Thr440=
ENST00000554995.2:n.2070C>T
ENST00000555386.6:c.*275C>T ENSP00000450845.1:n.*275C>T
ENST00000556066.2:n.1746C>T
ENST00000556951.6:c.1308C>T ENSP00000450551.2:p.Thr436=
ENST00000557293.6:c.1200C>T ENSP00000451880.2:p.Thr400=
ENST00000559361.6:c.*1264C>T ENSP00000454156.1:n.*1264C>T
ENST00000697912.1:c.*508C>T ENSP00000513477.1:n.*508C>T
ENST00000697913.1:n.6870C>T
ENST00000697915.1:n.677C>T
ENST00000700265.1:c.1308C>T ENSP00000514901.1:p.Thr436=
ENST00000700266.1:c.*1532C>T ENSP00000514902.1:n.*1532C>T
ENST00000700267.1:c.1320C>T ENSP00000514903.1:p.Thr440=
ENST00000700268.1:c.1320C>T ENSP00000514904.1:p.Thr440=
ENST00000700269.1:c.1320C>T ENSP00000514905.1:p.Thr440=
ENST00000700271.1:c.1134C>T ENSP00000514906.1:p.Thr378=
ENST00000700272.1:c.*1264C>T ENSP00000514907.1:n.*1264C>T
ENST00000700273.1:c.1308C>T ENSP00000514908.1:p.Thr436=
ENST00000700302.1:c.*136C>T ENSP00000514929.1:n.*136C>T
ENST00000700303.1:c.*982C>T ENSP00000514930.1:n.*982C>T
ENST00000700304.1:c.*1264C>T ENSP00000514931.1:n.*1264C>T
ENST00000700305.1:c.*878C>T ENSP00000514932.1:n.*878C>T
ENST00000700306.1:c.1320C>T ENSP00000514933.1:p.Thr440=
ENST00000700307.1:c.1221C>T ENSP00000514934.1:p.Thr407=
ENST00000700308.1:c.*1264C>T ENSP00000514935.1:n.*1264C>T
ENST00000700309.1:c.*1409C>T ENSP00000514936.1:n.*1409C>T
ENST00000700310.1:c.*275C>T ENSP00000514937.1:n.*275C>T
ENST00000700311.1:c.*136C>T ENSP00000514938.1:n.*136C>T
ENST00000700312.1:c.1071C>T ENSP00000514939.1:p.Thr357=
ENST00000700313.1:c.1308C>T ENSP00000514940.1:p.Thr436=
ENST00000700314.1:c.*1259C>T ENSP00000514941.1:n.*1259C>T
ENST00000700315.1:c.*878C>T ENSP00000514942.1:n.*878C>T
ENST00000700316.1:c.*1100C>T ENSP00000514943.1:n.*1100C>T
ENST00000700317.1:c.1320C>T ENSP00000514944.1:p.Thr440=
ENST00000700318.1:c.*982C>T ENSP00000514945.1:n.*982C>T
ENST00000700319.1:c.*760C>T ENSP00000514946.1:n.*760C>T
ENST00000700320.1:c.1347C>T ENSP00000514947.1:p.Thr449=
ENST00000700321.1:c.1320C>T ENSP00000514948.1:p.Thr440=
ENST00000700322.1:c.1308C>T ENSP00000514949.1:p.Thr436=
ENST00000700323.1:c.1320C>T ENSP00000514950.1:p.Thr440=
ENST00000700324.1:c.1308C>T ENSP00000514951.1:p.Thr436=
ENST00000700375.1:c.1320C>T ENSP00000514966.1:p.Thr440=
ENST00000700377.1:c.*788C>T ENSP00000514967.1:n.*788C>T
ENST00000700378.1:c.1320C>T ENSP00000514968.1:p.Thr440=
ENST00000700379.1:n.1718C>T
ENST00000700389.1:c.1308C>T ENSP00000514970.1:p.Thr436=
ENST00000700390.1:n.3031C>T
ENST00000700391.1:n.531C>T
ENST00000700404.1:n.2319C>T
ENST00000700436.1:c.*275C>T ENSP00000514987.1:n.*275C>T
ENST00000700437.1:c.1071C>T ENSP00000514988.1:p.Thr357=
ENST00000700468.1:c.1209C>T ENSP00000515001.1:p.Thr403=
ENST00000700469.1:c.1308C>T ENSP00000515002.1:p.Thr436=
ENST00000324501.10:c.1320C>T MANE Select ENSP00000326366.5:p.Thr440=
ENST00000324501.9:c.1320C>T ENSP00000326366.5:p.Thr440=
ENST00000357710.8:c.1308C>T ENSP00000350342.4:p.Thr436=
ENST00000394164.5:c.1308C>T ENSP00000377719.1:p.Thr436=
ENST00000406768.1:c.1044C>T ENSP00000385948.1:p.Thr348=
ENST00000555386.5:c.1400C>T ENSP00000450845.1:n.1400C>T
ENST00000555867.1:n.685C>T
ENST00000557511.5:c.1146C>T ENSP00000451429.1:p.Thr382=
NM_000021.3:c.1320C>T NP_000012.1:p.Thr440=
NM_007318.2:c.1308C>T NP_015557.2:p.Thr436=
XM_005267864.1:c.1320C>T XP_005267921.1:p.Thr440=
XM_005267866.1:c.1308C>T XP_005267923.1:p.Thr436=
XM_011536971.1:c.1320C>T XP_011535273.1:p.Thr440=
XM_011536972.1:c.1320C>T XP_011535274.1:p.Thr440=
XM_011536973.1:c.1308C>T XP_011535275.1:p.Thr436=
XM_011536974.1:c.1308C>T XP_011535276.1:p.Thr436=
XM_005267864.3:c.1320C>T XP_005267921.1:p.Thr440=
XM_005267866.2:c.1308C>T XP_005267923.1:p.Thr436=
XM_011536972.2:c.1320C>T XP_011535274.1:p.Thr440=
XM_011536973.2:c.1308C>T XP_011535275.1:p.Thr436=
XM_011536974.2:c.1308C>T XP_011535276.1:p.Thr436=
NM_000021.4:c.1320C>T MANE Select NP_000012.1:p.Thr440=
NM_007318.3:c.1308C>T NP_015557.2:p.Thr436=