Canonical Allele Identifier: CA2146480438

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73198045T= , CM000676.2:g.73198045T=	GRCh38
NC_000014.8:g.73664753T= , CM000676.1:g.73664753T=	GRCh37
NC_000014.7:g.72734506T=	NCBI36
NG_007386.2:g.66575T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.772T=	ENSP00000452477.2:p.Leu258=
ENST00000554131.6:c.784T=	ENSP00000451915.2:p.Leu262=
ENST00000554995.2:n.1534T=
ENST00000555386.6:c.772T=	ENSP00000450845.1:p.Leu258=
ENST00000556066.2:n.1210T=
ENST00000556951.6:c.772T=	ENSP00000450551.2:p.Leu258=
ENST00000557293.6:c.664T=	ENSP00000451880.2:p.Leu222=
ENST00000559361.6:c.*728T=	ENSP00000454156.1:n.*728T=
ENST00000697912.1:c.772T=	ENSP00000513477.1:p.Leu258=
ENST00000697913.1:n.1038T=
ENST00000700265.1:c.772T=	ENSP00000514901.1:p.Leu258=
ENST00000700266.1:c.*996T=	ENSP00000514902.1:n.*996T=
ENST00000700267.1:c.784T=	ENSP00000514903.1:p.Leu262=
ENST00000700268.1:c.784T=	ENSP00000514904.1:p.Leu262=
ENST00000700269.1:c.784T=	ENSP00000514905.1:p.Leu262=
ENST00000700270.1:n.1040T=
ENST00000700271.1:c.772T=	ENSP00000514906.1:p.Leu258=
ENST00000700272.1:c.*728T=	ENSP00000514907.1:n.*728T=
ENST00000700273.1:c.772T=	ENSP00000514908.1:p.Leu258=
ENST00000700302.1:c.784T=	ENSP00000514929.1:p.Leu262=
ENST00000700303.1:c.*446T=	ENSP00000514930.1:n.*446T=
ENST00000700304.1:c.*728T=	ENSP00000514931.1:n.*728T=
ENST00000700305.1:c.*342T=	ENSP00000514932.1:n.*342T=
ENST00000700306.1:c.784T=	ENSP00000514933.1:p.Leu262=
ENST00000700307.1:c.769+5181T=	ENSP00000514934.1:n.769+5181T=
ENST00000700308.1:c.*728T=	ENSP00000514935.1:n.*728T=
ENST00000700309.1:c.*873T=	ENSP00000514936.1:n.*873T=
ENST00000700310.1:c.757+5181T=	ENSP00000514937.1:n.757+5181T=
ENST00000700311.1:c.784T=	ENSP00000514938.1:p.Leu262=
ENST00000700312.1:c.535T=	ENSP00000514939.1:p.Leu179=
ENST00000700313.1:c.772T=	ENSP00000514940.1:p.Leu258=
ENST00000700314.1:c.*723T=	ENSP00000514941.1:n.*723T=
ENST00000700315.1:c.*342T=	ENSP00000514942.1:n.*342T=
ENST00000700316.1:c.*564T=	ENSP00000514943.1:n.*564T=
ENST00000700317.1:c.784T=	ENSP00000514944.1:p.Leu262=
ENST00000700318.1:c.*446T=	ENSP00000514945.1:n.*446T=
ENST00000700319.1:c.*224T=	ENSP00000514946.1:n.*224T=
ENST00000700320.1:c.811T=	ENSP00000514947.1:p.Leu271=
ENST00000700321.1:c.784T=	ENSP00000514948.1:p.Leu262=
ENST00000700322.1:c.772T=	ENSP00000514949.1:p.Leu258=
ENST00000700323.1:c.784T=	ENSP00000514950.1:p.Leu262=
ENST00000700324.1:c.772T=	ENSP00000514951.1:p.Leu258=
ENST00000700375.1:c.784T=	ENSP00000514966.1:p.Leu262=
ENST00000700377.1:c.*252T=	ENSP00000514967.1:n.*252T=
ENST00000700378.1:c.784T=	ENSP00000514968.1:p.Leu262=
ENST00000700379.1:n.1182T=
ENST00000700389.1:c.772T=	ENSP00000514970.1:p.Leu258=
ENST00000700390.1:n.2495T=
ENST00000700404.1:n.1783T=
ENST00000700433.1:n.1035T=
ENST00000700434.1:n.1037T=
ENST00000700435.1:n.919T=
ENST00000700436.1:c.784T=	ENSP00000514987.1:p.Leu262=
ENST00000700437.1:c.535T=	ENSP00000514988.1:p.Leu179=
ENST00000700467.1:n.1041T=
ENST00000700468.1:c.757+5181T=	ENSP00000515001.1:n.757+5181T=
ENST00000700469.1:c.772T=	ENSP00000515002.1:p.Leu258=
ENST00000324501.10:c.784T= MANE Select	ENSP00000326366.5:p.Leu262=
ENST00000324501.9:c.784T=	ENSP00000326366.5:p.Leu262=
ENST00000357710.8:c.772T=	ENSP00000350342.4:p.Leu258=
ENST00000394164.5:c.772T=	ENSP00000377719.1:p.Leu258=
ENST00000406768.1:c.508T=	ENSP00000385948.1:p.Leu170=
ENST00000553855.5:c.784T=	ENSP00000452242.1:p.Leu262=
ENST00000554995.1:n.336T=
ENST00000555386.5:c.772T=	ENSP00000450845.1:p.Leu258=
ENST00000557511.5:c.784T=	ENSP00000451429.1:p.Leu262=
NM_000021.3:c.784T=	NP_000012.1:p.Leu262=
NM_007318.2:c.772T=	NP_015557.2:p.Leu258=
XM_005267864.1:c.784T=	XP_005267921.1:p.Leu262=
XM_005267866.1:c.772T=	XP_005267923.1:p.Leu258=
XM_011536971.1:c.784T=	XP_011535273.1:p.Leu262=
XM_011536972.1:c.784T=	XP_011535274.1:p.Leu262=
XM_011536973.1:c.772T=	XP_011535275.1:p.Leu258=
XM_011536974.1:c.772T=	XP_011535276.1:p.Leu258=
XM_005267864.3:c.784T=	XP_005267921.1:p.Leu262=
XM_005267866.2:c.772T=	XP_005267923.1:p.Leu258=
XM_011536972.2:c.784T=	XP_011535274.1:p.Leu262=
XM_011536973.2:c.772T=	XP_011535275.1:p.Leu258=
XM_011536974.2:c.772T=	XP_011535276.1:p.Leu258=
NM_000021.4:c.784T= MANE Select	NP_000012.1:p.Leu262=
NM_007318.3:c.772T=	NP_015557.2:p.Leu258=