Canonical Allele Identifier: CA2146453914

Gene: PSEN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136541G= , CM000676.2:g.73136541G=	GRCh38
NC_000014.8:g.73603249G= , CM000676.1:g.73603249G=	GRCh37
NC_000014.7:g.72673002G=	NCBI36
NG_007386.2:g.5071G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553447.7:c.-215G=	ENSP00000514869.1:n.-215G=
ENST00000553599.6:c.-220G=	ENSP00000452477.2:n.-220G=
ENST00000554131.6:c.-219G=	ENSP00000451915.2:n.-219G=
ENST00000555386.6:c.-178G=	ENSP00000450845.1:n.-178G=
ENST00000556011.6:c.-220G=	ENSP00000451662.2:n.-220G=
ENST00000556951.6:c.-174G=	ENSP00000450551.2:n.-174G=
ENST00000557293.6:c.-174G=	ENSP00000451880.2:n.-174G=
ENST00000559361.6:c.-174G=	ENSP00000454156.1:n.-174G=
ENST00000697912.1:c.-178G=	ENSP00000513477.1:n.-178G=
ENST00000697913.1:n.77G=
ENST00000697914.1:n.35G=
ENST00000700265.1:c.-104+93G=	ENSP00000514901.1:n.-104+93G=
ENST00000700266.1:c.-178G=	ENSP00000514902.1:n.-178G=
ENST00000700267.1:c.-136+93G=	ENSP00000514903.1:n.-136+93G=
ENST00000700268.1:c.-174G=	ENSP00000514904.1:n.-174G=
ENST00000700269.1:c.-220G=	ENSP00000514905.1:n.-220G=
ENST00000700270.1:n.91G=
ENST00000700271.1:c.-178G=	ENSP00000514906.1:n.-178G=
ENST00000700272.1:c.-174G=	ENSP00000514907.1:n.-174G=
ENST00000700273.1:c.-220G=	ENSP00000514908.1:n.-220G=
ENST00000700302.1:c.-178G=	ENSP00000514929.1:n.-178G=
ENST00000700303.1:c.-178G=	ENSP00000514930.1:n.-178G=
ENST00000700304.1:c.-178G=	ENSP00000514931.1:n.-178G=
ENST00000700305.1:c.-178G=	ENSP00000514932.1:n.-178G=
ENST00000700306.1:c.-220G=	ENSP00000514933.1:n.-220G=
ENST00000700307.1:c.-178G=	ENSP00000514934.1:n.-178G=
ENST00000700308.1:c.-178G=	ENSP00000514935.1:n.-178G=
ENST00000700309.1:c.-178G=	ENSP00000514936.1:n.-178G=
ENST00000700310.1:c.-178G=	ENSP00000514937.1:n.-178G=
ENST00000700311.1:c.-219G=	ENSP00000514938.1:n.-219G=
ENST00000700312.1:c.-327G=	ENSP00000514939.1:n.-327G=
ENST00000700313.1:c.-215G=	ENSP00000514940.1:n.-215G=
ENST00000700314.1:c.-178G=	ENSP00000514941.1:n.-178G=
ENST00000700315.1:c.-178G=	ENSP00000514942.1:n.-178G=
ENST00000700316.1:c.-178G=	ENSP00000514943.1:n.-178G=
ENST00000700317.1:c.-146G=	ENSP00000514944.1:n.-146G=
ENST00000700318.1:c.-178G=	ENSP00000514945.1:n.-178G=
ENST00000700319.1:c.-178G=	ENSP00000514946.1:n.-178G=
ENST00000700320.1:c.-178G=	ENSP00000514947.1:n.-178G=
ENST00000700321.1:c.-180G=	ENSP00000514948.1:n.-180G=
ENST00000700322.1:c.-146G=	ENSP00000514949.1:n.-146G=
ENST00000700323.1:c.-224G=	ENSP00000514950.1:n.-224G=
ENST00000700324.1:c.-219G=	ENSP00000514951.1:n.-219G=
ENST00000700374.1:n.81G=
ENST00000700388.1:n.70G=
ENST00000700389.1:c.-343G=	ENSP00000514970.1:n.-343G=
ENST00000324501.10:c.-178G= MANE Select	ENSP00000326366.5:n.-178G=
ENST00000324501.9:c.-178G=	ENSP00000326366.5:n.-178G=
ENST00000357710.8:c.-178G=	ENSP00000350342.4:n.-178G=
ENST00000394157.7:c.-178G=	ENSP00000377712.3:n.-178G=
ENST00000553447.6:n.65G=
ENST00000553599.5:c.-220G=	ENSP00000452477.1:n.-220G=
ENST00000553719.5:c.-174G=	ENSP00000451674.1:n.-174G=
ENST00000554131.5:c.-219G=	ENSP00000451915.1:n.-219G=
ENST00000555254.5:c.-202G=	ENSP00000450652.1:n.-202G=
ENST00000556011.5:c.-220G=	ENSP00000451662.1:n.-220G=
ENST00000556533.5:c.-167G=	ENSP00000452128.1:n.-167G=
ENST00000556864.5:c.-277G=	ENSP00000451588.1:n.-277G=
ENST00000556951.5:c.-174G=	ENSP00000450551.1:n.-174G=
ENST00000557037.5:c.-367G=	ENSP00000451347.1:n.-367G=
ENST00000557293.5:c.-174G=	ENSP00000451880.1:n.-174G=
ENST00000557356.5:c.-136+93G=	ENSP00000451498.1:n.-136+93G=
ENST00000559361.5:c.-174G=	ENSP00000454156.1:n.-174G=
ENST00000560005.6:c.-280G=	ENSP00000453466.1:n.-280G=
NM_000021.3:c.-178G=	NP_000012.1:n.-178G=
NM_007318.2:c.-178G=	NP_015557.2:n.-178G=
XM_005267864.1:c.-174G=	XP_005267921.1:n.-174G=
XM_005267866.1:c.-174G=	XP_005267923.1:n.-174G=
XM_005267864.3:c.-174G=	XP_005267921.1:n.-174G=
XM_005267866.2:c.-174G=	XP_005267923.1:n.-174G=
NM_000021.4:c.-178G= MANE Select	NP_000012.1:n.-178G=
NM_007318.3:c.-178G=	NP_015557.2:n.-178G=