Canonical Allele Identifier: CA7256971
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 747483
ClinVar RCV Id: RCV000924196
dbSNP Id: rs201453174

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73219196C>T , CM000676.2:g.73219196C>T GRCh38
NC_000014.8:g.73685904C>T , CM000676.1:g.73685904C>T GRCh37
NC_000014.7:g.72755657C>T NCBI36
NG_007386.2:g.87726C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.1311C>T MANE Select ENSP00000326366.5:p.Ile437=
ENST00000324501.9:c.1311C>T ENSP00000326366.5:p.Ile437=
ENST00000357710.8:c.1299C>T ENSP00000350342.4:p.Ile433=
ENST00000394164.5:c.1299C>T ENSP00000377719.1:p.Ile433=
ENST00000406768.1:c.1035C>T ENSP00000385948.1:p.Ile345=
ENST00000555386.5:n.1391C>T ENSP00000450845.1:n.1391C>T
ENST00000555867.1:n.676C>T
ENST00000557511.5:n.1137C>T ENSP00000451429.1:p.Ile379=
NM_000021.3:c.1311C>T NP_000012.1:p.Ile437=
NM_007318.2:c.1299C>T NP_015557.2:p.Ile433=
XM_005267864.1:c.1311C>T XP_005267921.1:p.Ile437=
XM_005267866.1:c.1299C>T XP_005267923.1:p.Ile433=
XM_011536971.1:c.1311C>T XP_011535273.1:p.Ile437=
XM_011536972.1:c.1311C>T XP_011535274.1:p.Ile437=
XM_011536973.1:c.1299C>T XP_011535275.1:p.Ile433=
XM_011536974.1:c.1299C>T XP_011535276.1:p.Ile433=
XM_005267864.3:c.1311C>T XP_005267921.1:p.Ile437=
XM_005267866.2:c.1299C>T XP_005267923.1:p.Ile433=
XM_011536972.2:c.1311C>T XP_011535274.1:p.Ile437=
XM_011536973.2:c.1299C>T XP_011535275.1:p.Ile433=
XM_011536974.2:c.1299C>T XP_011535276.1:p.Ile433=
NM_000021.4:c.1311C>T MANE Select NP_000012.1:p.Ile437=
NM_007318.3:c.1299C>T NP_015557.2:p.Ile433=