Canonical Allele Identifier: CA2146453892
Gene: PSEN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136505T= , CM000676.2:g.73136505T= GRCh38
NC_000014.8:g.73603213T= , CM000676.1:g.73603213T= GRCh37
NC_000014.7:g.72672966T= NCBI36
NG_007386.2:g.5035T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553447.7:c.-251T= ENSP00000514869.1:n.-251T=
ENST00000553599.6:c.-256T= ENSP00000452477.2:n.-256T=
ENST00000554131.6:c.-255T= ENSP00000451915.2:n.-255T=
ENST00000555386.6:c.-214T= ENSP00000450845.1:n.-214T=
ENST00000556011.6:c.-256T= ENSP00000451662.2:n.-256T=
ENST00000556951.6:c.-210T= ENSP00000450551.2:n.-210T=
ENST00000557293.6:c.-210T= ENSP00000451880.2:n.-210T=
ENST00000697912.1:c.-214T= ENSP00000513477.1:n.-214T=
ENST00000697913.1:n.41T=
ENST00000700265.1:c.-104+57T= ENSP00000514901.1:n.-104+57T=
ENST00000700266.1:c.-214T= ENSP00000514902.1:n.-214T=
ENST00000700267.1:c.-136+57T= ENSP00000514903.1:n.-136+57T=
ENST00000700268.1:c.-210T= ENSP00000514904.1:n.-210T=
ENST00000700269.1:c.-256T= ENSP00000514905.1:n.-256T=
ENST00000700270.1:n.55T=
ENST00000700271.1:c.-214T= ENSP00000514906.1:n.-214T=
ENST00000700272.1:c.-210T= ENSP00000514907.1:n.-210T=
ENST00000700273.1:c.-256T= ENSP00000514908.1:n.-256T=
ENST00000700302.1:c.-214T= ENSP00000514929.1:n.-214T=
ENST00000700303.1:c.-214T= ENSP00000514930.1:n.-214T=
ENST00000700304.1:c.-214T= ENSP00000514931.1:n.-214T=
ENST00000700305.1:c.-214T= ENSP00000514932.1:n.-214T=
ENST00000700306.1:c.-256T= ENSP00000514933.1:n.-256T=
ENST00000700307.1:c.-214T= ENSP00000514934.1:n.-214T=
ENST00000700308.1:c.-214T= ENSP00000514935.1:n.-214T=
ENST00000700309.1:c.-214T= ENSP00000514936.1:n.-214T=
ENST00000700374.1:n.45T=
ENST00000700388.1:n.34T=
ENST00000700389.1:c.-379T= ENSP00000514970.1:n.-379T=
ENST00000324501.9:c.-214T= ENSP00000326366.5:n.-214T=
ENST00000357710.8:c.-214T= ENSP00000350342.4:n.-214T=
ENST00000394157.7:c.-214T= ENSP00000377712.3:n.-214T=
ENST00000553447.6:n.29T=
ENST00000553599.5:c.-256T= ENSP00000452477.1:n.-256T=
ENST00000553719.5:c.-210T= ENSP00000451674.1:n.-210T=
ENST00000554131.5:c.-255T= ENSP00000451915.1:n.-255T=
ENST00000555254.5:c.-238T= ENSP00000450652.1:n.-238T=
ENST00000556011.5:c.-256T= ENSP00000451662.1:n.-256T=
ENST00000556533.5:c.-203T= ENSP00000452128.1:n.-203T=
ENST00000556864.5:c.-313T= ENSP00000451588.1:n.-313T=
ENST00000556951.5:c.-210T= ENSP00000450551.1:n.-210T=
ENST00000557293.5:c.-210T= ENSP00000451880.1:n.-210T=
ENST00000557356.5:c.-136+57T= ENSP00000451498.1:n.-136+57T=
ENST00000560005.6:c.-316T= ENSP00000453466.1:n.-316T=
NM_000021.3:c.-214T= NP_000012.1:n.-214T=
NM_007318.2:c.-214T= NP_015557.2:n.-214T=
XM_005267864.1:c.-210T= XP_005267921.1:n.-210T=
XM_005267866.1:c.-210T= XP_005267923.1:n.-210T=
XM_005267864.3:c.-210T= XP_005267921.1:n.-210T=
XM_005267866.2:c.-210T= XP_005267923.1:n.-210T=