Canonical Allele Identifier: CA224984
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98005
ClinVar RCV Id: RCV000084282
dbSNP Id: rs63749967

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73170953G>C , CM000676.2:g.73170953G>C GRCh38
NC_000014.8:g.73637661G>C , CM000676.1:g.73637661G>C GRCh37
NC_000014.7:g.72707414G>C NCBI36
NG_007386.2:g.39483G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.244G>C MANE Select ENSP00000326366.5:p.Val82Leu
ENST00000324501.9:c.244G>C ENSP00000326366.5:p.Val82Leu
ENST00000357710.8:c.232G>C ENSP00000350342.4:p.Val78Leu
ENST00000394157.7:c.244G>C ENSP00000377712.3:p.Val82Leu
ENST00000394164.5:c.232G>C ENSP00000377719.1:p.Val78Leu
ENST00000406768.1:c.-33G>C ENSP00000385948.1:p.=
ENST00000553599.5:c.232G>C ENSP00000452477.1:p.Val78Leu
ENST00000553719.5:c.232G>C ENSP00000451674.1:p.Val78Leu
ENST00000553855.5:n.244G>C ENSP00000452242.1:p.Val82Leu
ENST00000554131.5:c.244G>C ENSP00000451915.1:p.Val82Leu
ENST00000555254.5:c.244G>C ENSP00000450652.1:p.Val82Leu
ENST00000555386.5:n.232G>C ENSP00000450845.1:p.Val78Leu
ENST00000556533.5:c.232G>C ENSP00000452128.1:p.Val78Leu
ENST00000556951.5:c.232G>C ENSP00000450551.1:p.Val78Leu
ENST00000557293.5:c.244G>C ENSP00000451880.1:p.Val82Leu
ENST00000557356.5:c.232G>C ENSP00000451498.1:p.Val78Leu
ENST00000557511.5:n.244G>C ENSP00000451429.1:p.Val82Leu
ENST00000559361.5:c.*188G>C ENSP00000454156.1:p.=
ENST00000560005.6:c.232G>C ENSP00000453466.1:p.Val78Leu
NM_000021.3:c.244G>C NP_000012.1:p.Val82Leu
NM_007318.2:c.232G>C NP_015557.2:p.Val78Leu
XM_005267864.1:c.244G>C XP_005267921.1:p.Val82Leu
XM_005267866.1:c.232G>C XP_005267923.1:p.Val78Leu
XM_011536971.1:c.244G>C XP_011535273.1:p.Val82Leu
XM_011536972.1:c.244G>C XP_011535274.1:p.Val82Leu
XM_011536973.1:c.232G>C XP_011535275.1:p.Val78Leu
XM_011536974.1:c.232G>C XP_011535276.1:p.Val78Leu
XM_005267864.3:c.244G>C XP_005267921.1:p.Val82Leu
XM_005267866.2:c.232G>C XP_005267923.1:p.Val78Leu
XM_011536972.2:c.244G>C XP_011535274.1:p.Val82Leu
XM_011536973.2:c.232G>C XP_011535275.1:p.Val78Leu
XM_011536974.2:c.232G>C XP_011535276.1:p.Val78Leu
NM_000021.4:c.244G>C MANE Select NP_000012.1:p.Val82Leu
NM_007318.3:c.232G>C NP_015557.2:p.Val78Leu