Canonical Allele Identifier: CA2146488436
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73222967T= , CM000676.2:g.73222967T= GRCh38
NC_000014.8:g.73689675T= , CM000676.1:g.73689675T= GRCh37
NC_000014.7:g.72759428T= NCBI36
NG_007386.2:g.91497T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.*3678T= ENSP00000452477.2:n.*3678T=
ENST00000554131.6:c.*3678T= ENSP00000451915.2:n.*3678T=
ENST00000554995.2:n.5832T=
ENST00000556066.2:n.5508T=
ENST00000556951.6:c.*3678T= ENSP00000450551.2:n.*3678T=
ENST00000557293.6:c.*3678T= ENSP00000451880.2:n.*3678T=
ENST00000559361.6:c.*5026T= ENSP00000454156.1:n.*5026T=
ENST00000697912.1:c.*4270T= ENSP00000513477.1:n.*4270T=
ENST00000697913.1:n.10632T=
ENST00000697915.1:n.4439T=
ENST00000700265.1:c.*3678T= ENSP00000514901.1:n.*3678T=
ENST00000700266.1:c.*5294T= ENSP00000514902.1:n.*5294T=
ENST00000700267.1:c.*3678T= ENSP00000514903.1:n.*3678T=
ENST00000700268.1:c.*3678T= ENSP00000514904.1:n.*3678T=
ENST00000700269.1:c.*3678T= ENSP00000514905.1:n.*3678T=
ENST00000700271.1:c.*3678T= ENSP00000514906.1:n.*3678T=
ENST00000700272.1:c.*5026T= ENSP00000514907.1:n.*5026T=
ENST00000700273.1:c.*3678T= ENSP00000514908.1:n.*3678T=
ENST00000700302.1:c.*3898T= ENSP00000514929.1:n.*3898T=
ENST00000700303.1:c.*4744T= ENSP00000514930.1:n.*4744T=
ENST00000700304.1:c.*5026T= ENSP00000514931.1:n.*5026T=
ENST00000700305.1:c.*4640T= ENSP00000514932.1:n.*4640T=
ENST00000700306.1:c.*3678T= ENSP00000514933.1:n.*3678T=
ENST00000700307.1:c.*3678T= ENSP00000514934.1:n.*3678T=
ENST00000700308.1:c.*5026T= ENSP00000514935.1:n.*5026T=
ENST00000700309.1:c.*5171T= ENSP00000514936.1:n.*5171T=
ENST00000700310.1:c.*4037T= ENSP00000514937.1:n.*4037T=
ENST00000700311.1:c.*3898T= ENSP00000514938.1:n.*3898T=
ENST00000700312.1:c.*3678T= ENSP00000514939.1:n.*3678T=
ENST00000700313.1:c.*3678T= ENSP00000514940.1:n.*3678T=
ENST00000700314.1:c.*5021T= ENSP00000514941.1:n.*5021T=
ENST00000700315.1:c.*4640T= ENSP00000514942.1:n.*4640T=
ENST00000700316.1:c.*4862T= ENSP00000514943.1:n.*4862T=
ENST00000700317.1:c.*3678T= ENSP00000514944.1:n.*3678T=
ENST00000700318.1:c.*4744T= ENSP00000514945.1:n.*4744T=
ENST00000700319.1:c.*4522T= ENSP00000514946.1:n.*4522T=
ENST00000700320.1:c.*3678T= ENSP00000514947.1:n.*3678T=
ENST00000700321.1:c.*3678T= ENSP00000514948.1:n.*3678T=
ENST00000700322.1:c.*3678T= ENSP00000514949.1:n.*3678T=
ENST00000700323.1:c.*3678T= ENSP00000514950.1:n.*3678T=
ENST00000700324.1:c.*3678T= ENSP00000514951.1:n.*3678T=
ENST00000700375.1:c.*3678T= ENSP00000514966.1:n.*3678T=
ENST00000700377.1:c.*4550T= ENSP00000514967.1:n.*4550T=
ENST00000700378.1:c.*3678T= ENSP00000514968.1:n.*3678T=
ENST00000700379.1:n.5480T=
ENST00000700390.1:n.6793T=
ENST00000700404.1:n.6081T=
ENST00000700436.1:c.*4037T= ENSP00000514987.1:n.*4037T=
ENST00000700437.1:c.*3678T= ENSP00000514988.1:n.*3678T=
ENST00000700468.1:c.*3678T= ENSP00000515001.1:n.*3678T=
ENST00000700469.1:c.*3678T= ENSP00000515002.1:n.*3678T=
ENST00000324501.10:c.*3678T= MANE Select ENSP00000326366.5:n.*3678T=
ENST00000324501.9:c.*3678T= ENSP00000326366.5:n.*3678T=
NM_000021.3:c.*3678T= NP_000012.1:n.*3678T=
NM_007318.2:c.*3678T= NP_015557.2:n.*3678T=
XM_005267864.1:c.*3678T= XP_005267921.1:n.*3678T=
XM_005267866.1:c.*3678T= XP_005267923.1:n.*3678T=
XM_011536971.1:c.*3678T= XP_011535273.1:n.*3678T=
XM_011536972.1:c.*3678T= XP_011535274.1:n.*3678T=
XM_011536973.1:c.*3678T= XP_011535275.1:n.*3678T=
XM_011536974.1:c.*3678T= XP_011535276.1:n.*3678T=
NM_000021.4:c.*3678T= MANE Select NP_000012.1:n.*3678T=
NM_007318.3:c.*3678T= NP_015557.2:n.*3678T=