Canonical Allele Identifier: CA2146490255

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73206388A= , CM000676.2:g.73206388A=	GRCh38
NC_000014.8:g.73673096A= , CM000676.1:g.73673096A=	GRCh37
NC_000014.7:g.72742849A=	NCBI36
NG_007386.2:g.74918A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.859A=	ENSP00000452477.2:p.Thr287=
ENST00000554131.6:c.871A=	ENSP00000451915.2:p.Thr291=
ENST00000554995.2:n.1621A=
ENST00000555386.6:c.859A=	ENSP00000450845.1:p.Thr287=
ENST00000556066.2:n.1297A=
ENST00000556951.6:c.859A=	ENSP00000450551.2:p.Thr287=
ENST00000557293.6:c.751A=	ENSP00000451880.2:p.Thr251=
ENST00000559361.6:c.*815A=	ENSP00000454156.1:n.*815A=
ENST00000697912.1:c.859A=	ENSP00000513477.1:p.Thr287=
ENST00000697913.1:n.1125A=
ENST00000700265.1:c.859A=	ENSP00000514901.1:p.Thr287=
ENST00000700266.1:c.*1083A=	ENSP00000514902.1:n.*1083A=
ENST00000700267.1:c.871A=	ENSP00000514903.1:p.Thr291=
ENST00000700268.1:c.871A=	ENSP00000514904.1:p.Thr291=
ENST00000700269.1:c.871A=	ENSP00000514905.1:p.Thr291=
ENST00000700270.1:n.1127A=
ENST00000700271.1:c.859A=	ENSP00000514906.1:p.Thr287=
ENST00000700272.1:c.*815A=	ENSP00000514907.1:n.*815A=
ENST00000700273.1:c.859A=	ENSP00000514908.1:p.Thr287=
ENST00000700302.1:c.871A=	ENSP00000514929.1:p.Thr291=
ENST00000700303.1:c.*533A=	ENSP00000514930.1:n.*533A=
ENST00000700304.1:c.*815A=	ENSP00000514931.1:n.*815A=
ENST00000700305.1:c.*429A=	ENSP00000514932.1:n.*429A=
ENST00000700306.1:c.871A=	ENSP00000514933.1:p.Thr291=
ENST00000700307.1:c.772A=	ENSP00000514934.1:p.Thr258=
ENST00000700308.1:c.*815A=	ENSP00000514935.1:n.*815A=
ENST00000700309.1:c.*960A=	ENSP00000514936.1:n.*960A=
ENST00000700310.1:c.760A=	ENSP00000514937.1:p.Thr254=
ENST00000700311.1:c.871A=	ENSP00000514938.1:p.Thr291=
ENST00000700312.1:c.622A=	ENSP00000514939.1:p.Thr208=
ENST00000700313.1:c.859A=	ENSP00000514940.1:p.Thr287=
ENST00000700314.1:c.*810A=	ENSP00000514941.1:n.*810A=
ENST00000700315.1:c.*429A=	ENSP00000514942.1:n.*429A=
ENST00000700316.1:c.*651A=	ENSP00000514943.1:n.*651A=
ENST00000700317.1:c.871A=	ENSP00000514944.1:p.Thr291=
ENST00000700318.1:c.*533A=	ENSP00000514945.1:n.*533A=
ENST00000700319.1:c.*311A=	ENSP00000514946.1:n.*311A=
ENST00000700320.1:c.898A=	ENSP00000514947.1:p.Thr300=
ENST00000700321.1:c.871A=	ENSP00000514948.1:p.Thr291=
ENST00000700322.1:c.859A=	ENSP00000514949.1:p.Thr287=
ENST00000700323.1:c.871A=	ENSP00000514950.1:p.Thr291=
ENST00000700324.1:c.859A=	ENSP00000514951.1:p.Thr287=
ENST00000700375.1:c.871A=	ENSP00000514966.1:p.Thr291=
ENST00000700377.1:c.*339A=	ENSP00000514967.1:n.*339A=
ENST00000700378.1:c.871A=	ENSP00000514968.1:p.Thr291=
ENST00000700379.1:n.1269A=
ENST00000700389.1:c.859A=	ENSP00000514970.1:p.Thr287=
ENST00000700390.1:n.2582A=
ENST00000700391.1:n.82A=
ENST00000700404.1:n.1870A=
ENST00000700433.1:n.1122A=
ENST00000700434.1:n.1124A=
ENST00000700435.1:n.1006A=
ENST00000700436.1:c.871A=	ENSP00000514987.1:p.Thr291=
ENST00000700437.1:c.622A=	ENSP00000514988.1:p.Thr208=
ENST00000700467.1:n.1128A=
ENST00000700468.1:c.760A=	ENSP00000515001.1:p.Thr254=
ENST00000700469.1:c.859A=	ENSP00000515002.1:p.Thr287=
ENST00000324501.10:c.871A= MANE Select	ENSP00000326366.5:p.Thr291=
ENST00000324501.9:c.871A=	ENSP00000326366.5:p.Thr291=
ENST00000357710.8:c.859A=	ENSP00000350342.4:p.Thr287=
ENST00000394164.5:c.859A=	ENSP00000377719.1:p.Thr287=
ENST00000406768.1:c.595A=	ENSP00000385948.1:p.Thr199=
ENST00000553855.5:c.871A=	ENSP00000452242.1:p.Thr291=
ENST00000554995.1:n.423A=
ENST00000555386.5:c.859A=	ENSP00000450845.1:p.Thr287=
ENST00000555867.1:n.236A=
ENST00000557511.5:c.871A=	ENSP00000451429.1:p.Thr291=
NM_000021.3:c.871A=	NP_000012.1:p.Thr291=
NM_007318.2:c.859A=	NP_015557.2:p.Thr287=
XM_005267864.1:c.871A=	XP_005267921.1:p.Thr291=
XM_005267866.1:c.859A=	XP_005267923.1:p.Thr287=
XM_011536971.1:c.871A=	XP_011535273.1:p.Thr291=
XM_011536972.1:c.871A=	XP_011535274.1:p.Thr291=
XM_011536973.1:c.859A=	XP_011535275.1:p.Thr287=
XM_011536974.1:c.859A=	XP_011535276.1:p.Thr287=
XM_005267864.3:c.871A=	XP_005267921.1:p.Thr291=
XM_005267866.2:c.859A=	XP_005267923.1:p.Thr287=
XM_011536972.2:c.871A=	XP_011535274.1:p.Thr291=
XM_011536973.2:c.859A=	XP_011535275.1:p.Thr287=
XM_011536974.2:c.859A=	XP_011535276.1:p.Thr287=
NM_000021.4:c.871A= MANE Select	NP_000012.1:p.Thr291=
NM_007318.3:c.859A=	NP_015557.2:p.Thr287=