Canonical Allele Identifier: CA225187
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98116
ClinVar RCV Id: RCV000084415
dbSNP Id: rs63750249

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219200A>G , CM000676.2:g.73219200A>G GRCh38
NC_000014.8:g.73685908A>G , CM000676.1:g.73685908A>G GRCh37
NC_000014.7:g.72755661A>G NCBI36
NG_007386.2:g.87730A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1315A>G MANE Select ENSP00000326366.5:p.Ile439Val
ENST00000324501.9:c.1315A>G ENSP00000326366.5:p.Ile439Val
ENST00000357710.8:c.1303A>G ENSP00000350342.4:p.Ile435Val
ENST00000394164.5:c.1303A>G ENSP00000377719.1:p.Ile435Val
ENST00000406768.1:c.1039A>G ENSP00000385948.1:p.Ile347Val
ENST00000555386.5:n.1395A>G ENSP00000450845.1:n.1395A>G
ENST00000555867.1:n.680A>G
ENST00000557511.5:n.1141A>G ENSP00000451429.1:p.Ile381Val
NM_000021.3:c.1315A>G NP_000012.1:p.Ile439Val
NM_007318.2:c.1303A>G NP_015557.2:p.Ile435Val
XM_005267864.1:c.1315A>G XP_005267921.1:p.Ile439Val
XM_005267866.1:c.1303A>G XP_005267923.1:p.Ile435Val
XM_011536971.1:c.1315A>G XP_011535273.1:p.Ile439Val
XM_011536972.1:c.1315A>G XP_011535274.1:p.Ile439Val
XM_011536973.1:c.1303A>G XP_011535275.1:p.Ile435Val
XM_011536974.1:c.1303A>G XP_011535276.1:p.Ile435Val
XM_005267864.3:c.1315A>G XP_005267921.1:p.Ile439Val
XM_005267866.2:c.1303A>G XP_005267923.1:p.Ile435Val
XM_011536972.2:c.1315A>G XP_011535274.1:p.Ile439Val
XM_011536973.2:c.1303A>G XP_011535275.1:p.Ile435Val
XM_011536974.2:c.1303A>G XP_011535276.1:p.Ile435Val
NM_000021.4:c.1315A>G MANE Select NP_000012.1:p.Ile439Val
NM_007318.3:c.1303A>G NP_015557.2:p.Ile435Val