Canonical Allele Identifier: CA225044
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98040
ClinVar RCV Id: RCV000084324
dbSNP Id: rs63750418

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73186877T>C , CM000676.2:g.73186877T>C GRCh38
NC_000014.8:g.73653585T>C , CM000676.1:g.73653585T>C GRCh37
NC_000014.7:g.72723338T>C NCBI36
NG_007386.2:g.55407T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000324501.10:c.505T>C MANE Select ENSP00000326366.5:p.Ser169Pro
ENST00000324501.9:c.505T>C ENSP00000326366.5:p.Ser169Pro
ENST00000357710.8:c.493T>C ENSP00000350342.4:p.Ser165Pro
ENST00000394164.5:c.493T>C ENSP00000377719.1:p.Ser165Pro
ENST00000406768.1:c.229T>C ENSP00000385948.1:p.Ser77Pro
ENST00000553855.5:n.505T>C ENSP00000452242.1:p.Ser169Pro
ENST00000555386.5:n.493T>C ENSP00000450845.1:p.Ser165Pro
ENST00000557511.5:n.505T>C ENSP00000451429.1:p.Ser169Pro
NM_000021.3:c.505T>C NP_000012.1:p.Ser169Pro
NM_007318.2:c.493T>C NP_015557.2:p.Ser165Pro
XM_005267864.1:c.505T>C XP_005267921.1:p.Ser169Pro
XM_005267866.1:c.493T>C XP_005267923.1:p.Ser165Pro
XM_011536971.1:c.505T>C XP_011535273.1:p.Ser169Pro
XM_011536972.1:c.505T>C XP_011535274.1:p.Ser169Pro
XM_011536973.1:c.493T>C XP_011535275.1:p.Ser165Pro
XM_011536974.1:c.493T>C XP_011535276.1:p.Ser165Pro
XM_005267864.3:c.505T>C XP_005267921.1:p.Ser169Pro
XM_005267866.2:c.493T>C XP_005267923.1:p.Ser165Pro
XM_011536972.2:c.505T>C XP_011535274.1:p.Ser169Pro
XM_011536973.2:c.493T>C XP_011535275.1:p.Ser165Pro
XM_011536974.2:c.493T>C XP_011535276.1:p.Ser165Pro
NM_000021.4:c.505T>C MANE Select NP_000012.1:p.Ser169Pro
NM_007318.3:c.493T>C NP_015557.2:p.Ser165Pro