Canonical Allele Identifier: CA2146485687

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219235T= , CM000676.2:g.73219235T=	GRCh38
NC_000014.8:g.73685943T= , CM000676.1:g.73685943T=	GRCh37
NC_000014.7:g.72755696T=	NCBI36
NG_007386.2:g.87765T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1338T=	ENSP00000452477.2:p.Asp446=
ENST00000554131.6:c.1350T=	ENSP00000451915.2:p.Asp450=
ENST00000554995.2:n.2100T=
ENST00000555386.6:c.*305T=	ENSP00000450845.1:n.*305T=
ENST00000556066.2:n.1776T=
ENST00000556951.6:c.1338T=	ENSP00000450551.2:p.Asp446=
ENST00000557293.6:c.1230T=	ENSP00000451880.2:p.Asp410=
ENST00000559361.6:c.*1294T=	ENSP00000454156.1:n.*1294T=
ENST00000697912.1:c.*538T=	ENSP00000513477.1:n.*538T=
ENST00000697913.1:n.6900T=
ENST00000697915.1:n.707T=
ENST00000700265.1:c.1338T=	ENSP00000514901.1:p.Asp446=
ENST00000700266.1:c.*1562T=	ENSP00000514902.1:n.*1562T=
ENST00000700267.1:c.1350T=	ENSP00000514903.1:p.Asp450=
ENST00000700268.1:c.1350T=	ENSP00000514904.1:p.Asp450=
ENST00000700269.1:c.1350T=	ENSP00000514905.1:p.Asp450=
ENST00000700271.1:c.1164T=	ENSP00000514906.1:p.Asp388=
ENST00000700272.1:c.*1294T=	ENSP00000514907.1:n.*1294T=
ENST00000700273.1:c.1338T=	ENSP00000514908.1:p.Asp446=
ENST00000700302.1:c.*166T=	ENSP00000514929.1:n.*166T=
ENST00000700303.1:c.*1012T=	ENSP00000514930.1:n.*1012T=
ENST00000700304.1:c.*1294T=	ENSP00000514931.1:n.*1294T=
ENST00000700305.1:c.*908T=	ENSP00000514932.1:n.*908T=
ENST00000700306.1:c.1350T=	ENSP00000514933.1:p.Asp450=
ENST00000700307.1:c.1251T=	ENSP00000514934.1:p.Asp417=
ENST00000700308.1:c.*1294T=	ENSP00000514935.1:n.*1294T=
ENST00000700309.1:c.*1439T=	ENSP00000514936.1:n.*1439T=
ENST00000700310.1:c.*305T=	ENSP00000514937.1:n.*305T=
ENST00000700311.1:c.*166T=	ENSP00000514938.1:n.*166T=
ENST00000700312.1:c.1101T=	ENSP00000514939.1:p.Asp367=
ENST00000700313.1:c.1338T=	ENSP00000514940.1:p.Asp446=
ENST00000700314.1:c.*1289T=	ENSP00000514941.1:n.*1289T=
ENST00000700315.1:c.*908T=	ENSP00000514942.1:n.*908T=
ENST00000700316.1:c.*1130T=	ENSP00000514943.1:n.*1130T=
ENST00000700317.1:c.1350T=	ENSP00000514944.1:p.Asp450=
ENST00000700318.1:c.*1012T=	ENSP00000514945.1:n.*1012T=
ENST00000700319.1:c.*790T=	ENSP00000514946.1:n.*790T=
ENST00000700320.1:c.1377T=	ENSP00000514947.1:p.Asp459=
ENST00000700321.1:c.1350T=	ENSP00000514948.1:p.Asp450=
ENST00000700322.1:c.1338T=	ENSP00000514949.1:p.Asp446=
ENST00000700323.1:c.1350T=	ENSP00000514950.1:p.Asp450=
ENST00000700324.1:c.1338T=	ENSP00000514951.1:p.Asp446=
ENST00000700375.1:c.1350T=	ENSP00000514966.1:p.Asp450=
ENST00000700377.1:c.*818T=	ENSP00000514967.1:n.*818T=
ENST00000700378.1:c.1350T=	ENSP00000514968.1:p.Asp450=
ENST00000700379.1:n.1748T=
ENST00000700389.1:c.1338T=	ENSP00000514970.1:p.Asp446=
ENST00000700390.1:n.3061T=
ENST00000700391.1:n.561T=
ENST00000700404.1:n.2349T=
ENST00000700436.1:c.*305T=	ENSP00000514987.1:n.*305T=
ENST00000700437.1:c.1101T=	ENSP00000514988.1:p.Asp367=
ENST00000700468.1:c.1239T=	ENSP00000515001.1:p.Asp413=
ENST00000700469.1:c.1338T=	ENSP00000515002.1:p.Asp446=
ENST00000324501.10:c.1350T= MANE Select	ENSP00000326366.5:p.Asp450=
ENST00000324501.9:c.1350T=	ENSP00000326366.5:p.Asp450=
ENST00000357710.8:c.1338T=	ENSP00000350342.4:p.Asp446=
ENST00000394164.5:c.1338T=	ENSP00000377719.1:p.Asp446=
ENST00000406768.1:c.1074T=	ENSP00000385948.1:p.Asp358=
ENST00000555386.5:c.1430T=	ENSP00000450845.1:n.1430T=
ENST00000555867.1:n.715T=
ENST00000557511.5:c.1176T=	ENSP00000451429.1:p.Asp392=
NM_000021.3:c.1350T=	NP_000012.1:p.Asp450=
NM_007318.2:c.1338T=	NP_015557.2:p.Asp446=
XM_005267864.1:c.1350T=	XP_005267921.1:p.Asp450=
XM_005267866.1:c.1338T=	XP_005267923.1:p.Asp446=
XM_011536971.1:c.1350T=	XP_011535273.1:p.Asp450=
XM_011536972.1:c.1350T=	XP_011535274.1:p.Asp450=
XM_011536973.1:c.1338T=	XP_011535275.1:p.Asp446=
XM_011536974.1:c.1338T=	XP_011535276.1:p.Asp446=
XM_005267864.3:c.1350T=	XP_005267921.1:p.Asp450=
XM_005267866.2:c.1338T=	XP_005267923.1:p.Asp446=
XM_011536972.2:c.1350T=	XP_011535274.1:p.Asp450=
XM_011536973.2:c.1338T=	XP_011535275.1:p.Asp446=
XM_011536974.2:c.1338T=	XP_011535276.1:p.Asp446=
NM_000021.4:c.1350T= MANE Select	NP_000012.1:p.Asp450=
NM_007318.3:c.1338T=	NP_015557.2:p.Asp446=