Canonical Allele Identifier: CA390306095
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 853657
ClinVar RCV Id: RCV001058511

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219204C>A , CM000676.2:g.73219204C>A GRCh38
NC_000014.8:g.73685912C>A , CM000676.1:g.73685912C>A GRCh37
NC_000014.7:g.72755665C>A NCBI36
NG_007386.2:g.87734C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1319C>A MANE Select ENSP00000326366.5:p.Thr440Asn
ENST00000324501.9:c.1319C>A ENSP00000326366.5:p.Thr440Asn
ENST00000357710.8:c.1307C>A ENSP00000350342.4:p.Thr436Asn
ENST00000394164.5:c.1307C>A ENSP00000377719.1:p.Thr436Asn
ENST00000406768.1:c.1043C>A ENSP00000385948.1:p.Thr348Asn
ENST00000555386.5:n.1399C>A ENSP00000450845.1:n.1399C>A
ENST00000555867.1:n.684C>A
ENST00000557511.5:n.1145C>A ENSP00000451429.1:p.Thr382Asn
NM_000021.3:c.1319C>A NP_000012.1:p.Thr440Asn
NM_007318.2:c.1307C>A NP_015557.2:p.Thr436Asn
XM_005267864.1:c.1319C>A XP_005267921.1:p.Thr440Asn
XM_005267866.1:c.1307C>A XP_005267923.1:p.Thr436Asn
XM_011536971.1:c.1319C>A XP_011535273.1:p.Thr440Asn
XM_011536972.1:c.1319C>A XP_011535274.1:p.Thr440Asn
XM_011536973.1:c.1307C>A XP_011535275.1:p.Thr436Asn
XM_011536974.1:c.1307C>A XP_011535276.1:p.Thr436Asn
XM_005267864.3:c.1319C>A XP_005267921.1:p.Thr440Asn
XM_005267866.2:c.1307C>A XP_005267923.1:p.Thr436Asn
XM_011536972.2:c.1319C>A XP_011535274.1:p.Thr440Asn
XM_011536973.2:c.1307C>A XP_011535275.1:p.Thr436Asn
XM_011536974.2:c.1307C>A XP_011535276.1:p.Thr436Asn
NM_000021.4:c.1319C>A MANE Select NP_000012.1:p.Thr440Asn
NM_007318.3:c.1307C>A NP_015557.2:p.Thr436Asn