Canonical Allele Identifier: CA258124
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18156
dbSNP Id: rs121917809

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73211811A>G , CM000676.2:g.73211811A>G GRCh38
NC_000014.8:g.73678519A>G , CM000676.1:g.73678519A>G GRCh37
NC_000014.7:g.72748272A>G NCBI36
NG_007386.2:g.80341A>G

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.998A>G VV NP_000012.1:p.Asp333Gly
NM_007318.2:c.986A>G VV NP_015557.2:p.Asp329Gly
XM_005267864.1:c.998A>G XP_005267921.1:p.Asp333Gly
XM_005267866.1:c.986A>G XP_005267923.1:p.Asp329Gly
XM_011536971.1:c.998A>G XP_011535273.1:p.Asp333Gly
XM_011536972.1:c.998A>G XP_011535274.1:p.Asp333Gly
XM_011536973.1:c.986A>G XP_011535275.1:p.Asp329Gly
XM_011536974.1:c.986A>G XP_011535276.1:p.Asp329Gly
XM_005267864.3:c.998A>G
XM_005267866.2:c.986A>G
XM_011536972.2:c.998A>G
XM_011536973.2:c.986A>G
XM_011536974.2:c.986A>G
ENST00000324501.9:c.998A>G ENSP00000326366.5:p.Asp333Gly
ENST00000357710.8:c.986A>G ENSP00000350342.4:p.Asp329Gly
ENST00000394164.5:c.986A>G ENSP00000377719.1:p.Asp329Gly
ENST00000406768.1:c.722A>G ENSP00000385948.1:p.Asp241Gly
ENST00000553855.5:n.1090A>G ENSP00000452242.1:p.Met364Val
ENST00000554995.1:n.550A>G
ENST00000555386.5:n.1078A>G ENSP00000450845.1:p.Met360Val
ENST00000555867.1:n.363A>G
ENST00000557511.5:n.956-5315A>G ENSP00000451429.1:p.=