Canonical Allele Identifier: CA390303037
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315928
ClinVar RCV Id: RCV001757375

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73170930C>T , CM000676.2:g.73170930C>T GRCh38
NC_000014.8:g.73637638C>T , CM000676.1:g.73637638C>T GRCh37
NC_000014.7:g.72707391C>T NCBI36
NG_007386.2:g.39460C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.221C>T MANE Select ENSP00000326366.5:p.Thr74Ile
ENST00000324501.9:c.221C>T ENSP00000326366.5:p.Thr74Ile
ENST00000357710.8:c.209C>T ENSP00000350342.4:p.Thr70Ile
ENST00000394157.7:c.221C>T ENSP00000377712.3:p.Thr74Ile
ENST00000394164.5:c.209C>T ENSP00000377719.1:p.Thr70Ile
ENST00000406768.1:c.-56C>T ENSP00000385948.1:n.-56C>T
ENST00000553599.5:c.209C>T ENSP00000452477.1:p.Thr70Ile
ENST00000553719.5:c.209C>T ENSP00000451674.1:p.Thr70Ile
ENST00000553855.5:n.221C>T ENSP00000452242.1:p.Thr74Ile
ENST00000554131.5:c.221C>T ENSP00000451915.1:p.Thr74Ile
ENST00000555254.5:c.221C>T ENSP00000450652.1:p.Thr74Ile
ENST00000555386.5:n.209C>T ENSP00000450845.1:p.Thr70Ile
ENST00000556533.5:c.209C>T ENSP00000452128.1:p.Thr70Ile
ENST00000556951.5:c.209C>T ENSP00000450551.1:p.Thr70Ile
ENST00000557293.5:c.221C>T ENSP00000451880.1:p.Thr74Ile
ENST00000557356.5:c.209C>T ENSP00000451498.1:p.Thr70Ile
ENST00000557511.5:n.221C>T ENSP00000451429.1:p.Thr74Ile
ENST00000559361.5:c.*165C>T ENSP00000454156.1:n.*165C>T
ENST00000560005.6:c.209C>T ENSP00000453466.1:p.Thr70Ile
NM_000021.3:c.221C>T NP_000012.1:p.Thr74Ile
NM_007318.2:c.209C>T NP_015557.2:p.Thr70Ile
XM_005267864.1:c.221C>T XP_005267921.1:p.Thr74Ile
XM_005267866.1:c.209C>T XP_005267923.1:p.Thr70Ile
XM_011536971.1:c.221C>T XP_011535273.1:p.Thr74Ile
XM_011536972.1:c.221C>T XP_011535274.1:p.Thr74Ile
XM_011536973.1:c.209C>T XP_011535275.1:p.Thr70Ile
XM_011536974.1:c.209C>T XP_011535276.1:p.Thr70Ile
XM_005267864.3:c.221C>T XP_005267921.1:p.Thr74Ile
XM_005267866.2:c.209C>T XP_005267923.1:p.Thr70Ile
XM_011536972.2:c.221C>T XP_011535274.1:p.Thr74Ile
XM_011536973.2:c.209C>T XP_011535275.1:p.Thr70Ile
XM_011536974.2:c.209C>T XP_011535276.1:p.Thr70Ile
NM_000021.4:c.221C>T MANE Select NP_000012.1:p.Thr74Ile
NM_007318.3:c.209C>T NP_015557.2:p.Thr70Ile