Canonical Allele Identifier: CA127843
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18159
ClinVar RCV Id: RCV000019789
dbSNP Id: rs267606983

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73192744G>C , CM000676.2:g.73192744G>C GRCh38
NC_000014.8:g.73659452G>C , CM000676.1:g.73659452G>C GRCh37
NC_000014.7:g.72729205G>C NCBI36
NG_007386.2:g.61274G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.9:c.649G>C ENSP00000326366.5:p.Gly217Arg
ENST00000357710.8:c.637G>C ENSP00000350342.4:p.Gly213Arg
ENST00000394164.5:c.637G>C ENSP00000377719.1:p.Gly213Arg
ENST00000406768.1:c.373G>C ENSP00000385948.1:p.Gly125Arg
ENST00000553855.5:n.649G>C ENSP00000452242.1:p.Gly217Arg
ENST00000555386.5:n.637G>C ENSP00000450845.1:p.Gly213Arg
ENST00000557511.5:n.649G>C ENSP00000451429.1:p.Gly217Arg
NM_000021.3:c.649G>C NP_000012.1:p.Gly217Arg
NM_007318.2:c.637G>C NP_015557.2:p.Gly213Arg
XM_005267864.1:c.649G>C XP_005267921.1:p.Gly217Arg
XM_005267866.1:c.637G>C XP_005267923.1:p.Gly213Arg
XM_011536971.1:c.649G>C XP_011535273.1:p.Gly217Arg
XM_011536972.1:c.649G>C XP_011535274.1:p.Gly217Arg
XM_011536973.1:c.637G>C XP_011535275.1:p.Gly213Arg
XM_011536974.1:c.637G>C XP_011535276.1:p.Gly213Arg
XM_005267864.3:c.649G>C XP_005267921.1:p.Gly217Arg
XM_005267866.2:c.637G>C XP_005267923.1:p.Gly213Arg
XM_011536972.2:c.649G>C XP_011535274.1:p.Gly217Arg
XM_011536973.2:c.637G>C XP_011535275.1:p.Gly213Arg
XM_011536974.2:c.637G>C XP_011535276.1:p.Gly213Arg
NM_000021.4:c.649G>C MANE Select NP_000012.1:p.Gly217Arg
NM_007318.3:c.637G>C NP_015557.2:p.Gly213Arg