Canonical Allele Identifier: CA13980403
Gene: PSEN1 HGNC NCBI

Linked Data

dbSNP Id: rs1800844

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136992G>C , CM000676.2:g.73136992G>C GRCh38
NC_000014.8:g.73603700G>C , CM000676.1:g.73603700G>C GRCh37
NC_000014.7:g.72673453G>C NCBI36
NG_007386.2:g.5522G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.-136+409G>C MANE Select ENSP00000326366.5:p.=
ENST00000324501.9:c.-136+409G>C ENSP00000326366.5:p.=
ENST00000357710.8:c.-136+409G>C ENSP00000350342.4:p.=
ENST00000394157.7:c.-136+409G>C ENSP00000377712.3:p.=
ENST00000394164.5:c.-367G>C ENSP00000377719.1:p.=
ENST00000553447.6:n.103+413G>C
ENST00000553599.5:c.-178+409G>C ENSP00000452477.1:p.=
ENST00000553719.5:c.-136+413G>C ENSP00000451674.1:p.=
ENST00000554131.5:c.-177+409G>C ENSP00000451915.1:p.=
ENST00000555254.5:c.-160+409G>C ENSP00000450652.1:p.=
ENST00000556011.5:c.-182+413G>C ENSP00000451662.1:p.=
ENST00000556533.5:c.-125+409G>C ENSP00000452128.1:p.=
ENST00000556864.5:c.-234-133G>C ENSP00000451588.1:p.=
ENST00000556951.5:c.-136+413G>C ENSP00000450551.1:p.=
ENST00000557037.5:c.-324-133G>C ENSP00000451347.1:p.=
ENST00000557293.5:c.-136+413G>C ENSP00000451880.1:p.=
ENST00000557356.5:c.-136+544G>C ENSP00000451498.1:p.=
ENST00000559361.5:c.-136+413G>C ENSP00000454156.1:p.=
ENST00000560005.6:c.-238+409G>C ENSP00000453466.1:p.=
NM_000021.3:c.-136+409G>C NP_000012.1:p.=
NM_007318.2:c.-136+409G>C NP_015557.2:p.=
XM_005267864.1:c.-136+413G>C XP_005267921.1:p.=
XM_005267866.1:c.-136+413G>C XP_005267923.1:p.=
XM_011536972.1:c.-367G>C XP_011535274.1:p.=
XM_011536973.1:c.-367G>C XP_011535275.1:p.=
XM_005267864.3:c.-136+413G>C XP_005267921.1:p.=
XM_005267866.2:c.-136+413G>C XP_005267923.1:p.=
XM_011536972.2:c.-367G>C XP_011535274.1:p.=
XM_011536973.2:c.-367G>C XP_011535275.1:p.=
NM_000021.4:c.-136+409G>C MANE Select NP_000012.1:p.=
NM_007318.3:c.-136+409G>C NP_015557.2:p.=