Canonical Allele Identifier: CA225525
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18141
dbSNP Id: rs281875357

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219185_73219186delinsTG , CM000676.2:g.73219185_73219186delinsTG GRCh38
NC_000014.8:g.73685893_73685894delinsTG , CM000676.1:g.73685893_73685894delinsTG GRCh37
NC_000014.7:g.72755646_72755647delinsTG NCBI36
NG_007386.2:g.87715_87716delinsTG

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.1300_1301delinsTG VV NP_000012.1:p.Ala434Cys
NM_007318.2:c.1288_1289delinsTG VV NP_015557.2:p.Ala430Cys
XM_005267864.1:c.1300_1301delinsTG XP_005267921.1:p.Ala434Cys
XM_005267866.1:c.1288_1289delinsTG XP_005267923.1:p.Ala430Cys
XM_011536971.1:c.1300_1301delinsTG XP_011535273.1:p.Ala434Cys
XM_011536972.1:c.1300_1301delinsTG XP_011535274.1:p.Ala434Cys
XM_011536973.1:c.1288_1289delinsTG XP_011535275.1:p.Ala430Cys
XM_011536974.1:c.1288_1289delinsTG XP_011535276.1:p.Ala430Cys
XM_005267864.3:c.1300_1301delinsTG XP_005267921.1:p.Ala434Cys
XM_005267866.2:c.1288_1289delinsTG XP_005267923.1:p.Ala430Cys
XM_011536972.2:c.1300_1301delinsTG XP_011535274.1:p.Ala434Cys
XM_011536973.2:c.1288_1289delinsTG XP_011535275.1:p.Ala430Cys
XM_011536974.2:c.1288_1289delinsTG XP_011535276.1:p.Ala430Cys
NM_000021.4:c.1300_1301delinsTG VV MANE Preferred NP_000012.1:p.Ala434Cys
ENST00000324501.9:c.1300_1301delinsTG ENSP00000326366.5:p.Ala434Cys
ENST00000357710.8:c.1288_1289delinsTG ENSP00000350342.4:p.Ala430Cys
ENST00000394164.5:c.1288_1289delinsTG ENSP00000377719.1:p.Ala430Cys
ENST00000406768.1:c.1024_1025delinsTG ENSP00000385948.1:p.Ala342Cys
ENST00000555386.5:n.1380_1381delinsTG ENSP00000450845.1:p.=
ENST00000555867.1:n.665_666delinsTG
ENST00000557511.5:n.1126_1127delinsTG ENSP00000451429.1:p.Ala376Cys