Canonical Allele Identifier: CA224995
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98011
ClinVar RCV Id: RCV000084290
dbSNP Id: rs63750325

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73171022T>A , CM000676.2:g.73171022T>A GRCh38
NC_000014.8:g.73637730T>A , CM000676.1:g.73637730T>A GRCh37
NC_000014.7:g.72707483T>A NCBI36
NG_007386.2:g.39552T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.313T>A MANE Select ENSP00000326366.5:p.Phe105Ile
ENST00000324501.9:c.313T>A ENSP00000326366.5:p.Phe105Ile
ENST00000357710.8:c.301T>A ENSP00000350342.4:p.Phe101Ile
ENST00000394157.7:c.313T>A ENSP00000377712.3:p.Phe105Ile
ENST00000394164.5:c.301T>A ENSP00000377719.1:p.Phe101Ile
ENST00000406768.1:c.37T>A ENSP00000385948.1:p.Phe13Ile
ENST00000553719.5:c.301T>A ENSP00000451674.1:p.Phe101Ile
ENST00000553855.5:n.313T>A ENSP00000452242.1:p.Phe105Ile
ENST00000554131.5:c.313T>A ENSP00000451915.1:p.Phe105Ile
ENST00000555254.5:c.313T>A ENSP00000450652.1:p.Phe105Ile
ENST00000555386.5:n.301T>A ENSP00000450845.1:p.Phe101Ile
ENST00000557356.5:c.301T>A ENSP00000451498.1:p.Phe101Ile
ENST00000557511.5:n.313T>A ENSP00000451429.1:p.Phe105Ile
ENST00000559361.5:c.*257T>A ENSP00000454156.1:n.*257T>A
ENST00000560005.6:c.301T>A ENSP00000453466.1:p.Phe101Ile
NM_000021.3:c.313T>A NP_000012.1:p.Phe105Ile
NM_007318.2:c.301T>A NP_015557.2:p.Phe101Ile
XM_005267864.1:c.313T>A XP_005267921.1:p.Phe105Ile
XM_005267866.1:c.301T>A XP_005267923.1:p.Phe101Ile
XM_011536971.1:c.313T>A XP_011535273.1:p.Phe105Ile
XM_011536972.1:c.313T>A XP_011535274.1:p.Phe105Ile
XM_011536973.1:c.301T>A XP_011535275.1:p.Phe101Ile
XM_011536974.1:c.301T>A XP_011535276.1:p.Phe101Ile
XM_005267864.3:c.313T>A XP_005267921.1:p.Phe105Ile
XM_005267866.2:c.301T>A XP_005267923.1:p.Phe101Ile
XM_011536972.2:c.313T>A XP_011535274.1:p.Phe105Ile
XM_011536973.2:c.301T>A XP_011535275.1:p.Phe101Ile
XM_011536974.2:c.301T>A XP_011535276.1:p.Phe101Ile
NM_000021.4:c.313T>A MANE Select NP_000012.1:p.Phe105Ile
NM_007318.3:c.301T>A NP_015557.2:p.Phe101Ile