Canonical Allele Identifier: CA225009

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 18135
• ClinVar RCV Id: RCV000019765 ; RCV000084300
• dbSNP Id: rs63751272
• MyVariant Identifiers: chr14:g.73640295A>T (hg19) ; chr14:g.73173587A>T (hg38)
• PubMed: PMID:8931704

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73173587A>T , CM000676.2:g.73173587A>T	GRCh38
NC_000014.8:g.73640295A>T , CM000676.1:g.73640295A>T	GRCh37
NC_000014.7:g.72710048A>T	NCBI36
NG_007386.2:g.42117A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.360A>T MANE Select	ENSP00000326366.5:p.Glu120Asp
ENST00000324501.9:c.360A>T	ENSP00000326366.5:p.Glu120Asp
ENST00000357710.8:c.348A>T	ENSP00000350342.4:p.Glu116Asp
ENST00000394157.7:c.360A>T	ENSP00000377712.3:p.Glu120Asp
ENST00000394164.5:c.348A>T	ENSP00000377719.1:p.Glu116Asp
ENST00000406768.1:c.84A>T	ENSP00000385948.1:p.Glu28Asp
ENST00000553719.5:c.348A>T	ENSP00000451674.1:p.Glu116Asp
ENST00000553855.5:n.360A>T	ENSP00000452242.1:p.Glu120Asp
ENST00000555254.5:c.360A>T	ENSP00000450652.1:p.Glu120Asp
ENST00000555386.5:n.348A>T	ENSP00000450845.1:p.Glu116Asp
ENST00000557356.5:c.348A>T	ENSP00000451498.1:p.Glu116Asp
ENST00000557511.5:n.360A>T	ENSP00000451429.1:p.Glu120Asp
ENST00000559361.5:c.*304A>T	ENSP00000454156.1:n.*304A>T
NM_000021.3:c.360A>T	NP_000012.1:p.Glu120Asp
NM_007318.2:c.348A>T	NP_015557.2:p.Glu116Asp
XM_005267864.1:c.360A>T	XP_005267921.1:p.Glu120Asp
XM_005267866.1:c.348A>T	XP_005267923.1:p.Glu116Asp
XM_011536971.1:c.360A>T	XP_011535273.1:p.Glu120Asp
XM_011536972.1:c.360A>T	XP_011535274.1:p.Glu120Asp
XM_011536973.1:c.348A>T	XP_011535275.1:p.Glu116Asp
XM_011536974.1:c.348A>T	XP_011535276.1:p.Glu116Asp
XM_005267864.3:c.360A>T	XP_005267921.1:p.Glu120Asp
XM_005267866.2:c.348A>T	XP_005267923.1:p.Glu116Asp
XM_011536972.2:c.360A>T	XP_011535274.1:p.Glu120Asp
XM_011536973.2:c.348A>T	XP_011535275.1:p.Glu116Asp
XM_011536974.2:c.348A>T	XP_011535276.1:p.Glu116Asp
NM_000021.4:c.360A>T MANE Select	NP_000012.1:p.Glu120Asp
NM_007318.3:c.348A>T	NP_015557.2:p.Glu116Asp