Canonical Allele Identifier: CA341491
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18131
dbSNP Id: rs63750231

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73198100A>C , CM000676.2:g.73198100A>C GRCh38
NC_000014.8:g.73664808A>C , CM000676.1:g.73664808A>C GRCh37
NC_000014.7:g.72734561A>C NCBI36
NG_007386.2:g.66630A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.839A>C MANE Select ENSP00000326366.5:p.Glu280Ala
ENST00000324501.9:c.839A>C ENSP00000326366.5:p.Glu280Ala
ENST00000357710.8:c.827A>C ENSP00000350342.4:p.Glu276Ala
ENST00000394164.5:c.827A>C ENSP00000377719.1:p.Glu276Ala
ENST00000406768.1:c.563A>C ENSP00000385948.1:p.Glu188Ala
ENST00000553855.5:n.839A>C ENSP00000452242.1:p.Glu280Ala
ENST00000554995.1:n.391A>C
ENST00000555386.5:n.827A>C ENSP00000450845.1:p.Glu276Ala
ENST00000557511.5:n.839A>C ENSP00000451429.1:p.Glu280Ala
NM_000021.3:c.839A>C NP_000012.1:p.Glu280Ala
NM_007318.2:c.827A>C NP_015557.2:p.Glu276Ala
XM_005267864.1:c.839A>C XP_005267921.1:p.Glu280Ala
XM_005267866.1:c.827A>C XP_005267923.1:p.Glu276Ala
XM_011536971.1:c.839A>C XP_011535273.1:p.Glu280Ala
XM_011536972.1:c.839A>C XP_011535274.1:p.Glu280Ala
XM_011536973.1:c.827A>C XP_011535275.1:p.Glu276Ala
XM_011536974.1:c.827A>C XP_011535276.1:p.Glu276Ala
XM_005267864.3:c.839A>C XP_005267921.1:p.Glu280Ala
XM_005267866.2:c.827A>C XP_005267923.1:p.Glu276Ala
XM_011536972.2:c.839A>C XP_011535274.1:p.Glu280Ala
XM_011536973.2:c.827A>C XP_011535275.1:p.Glu276Ala
XM_011536974.2:c.827A>C XP_011535276.1:p.Glu276Ala
NM_000021.4:c.839A>C MANE Select NP_000012.1:p.Glu280Ala
NM_007318.3:c.827A>C NP_015557.2:p.Glu276Ala