Canonical Allele Identifier: CA390304689

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 2094397
• ClinVar RCV Id: RCV003021319
• MyVariant Identifiers: chr14:g.73640287T>G (hg19) ; chr14:g.73173579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73173579T>G , CM000676.2:g.73173579T>G	GRCh38
NC_000014.8:g.73640287T>G , CM000676.1:g.73640287T>G	GRCh37
NC_000014.7:g.72710040T>G	NCBI36
NG_007386.2:g.42109T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.352T>G MANE Select	ENSP00000326366.5:p.Phe118Val
ENST00000324501.9:c.352T>G	ENSP00000326366.5:p.Phe118Val
ENST00000357710.8:c.340T>G	ENSP00000350342.4:p.Phe114Val
ENST00000394157.7:c.352T>G	ENSP00000377712.3:p.Phe118Val
ENST00000394164.5:c.340T>G	ENSP00000377719.1:p.Phe114Val
ENST00000406768.1:c.76T>G	ENSP00000385948.1:p.Phe26Val
ENST00000553719.5:c.340T>G	ENSP00000451674.1:p.Phe114Val
ENST00000553855.5:c.352T>G	ENSP00000452242.1:p.Phe118Val
ENST00000555254.5:c.352T>G	ENSP00000450652.1:p.Phe118Val
ENST00000555386.5:c.340T>G	ENSP00000450845.1:p.Phe114Val
ENST00000557356.5:c.340T>G	ENSP00000451498.1:p.Phe114Val
ENST00000557511.5:c.352T>G	ENSP00000451429.1:p.Phe118Val
ENST00000559361.5:c.*296T>G	ENSP00000454156.1:n.*296T>G
NM_000021.3:c.352T>G	NP_000012.1:p.Phe118Val
NM_007318.2:c.340T>G	NP_015557.2:p.Phe114Val
XM_005267864.1:c.352T>G	XP_005267921.1:p.Phe118Val
XM_005267866.1:c.340T>G	XP_005267923.1:p.Phe114Val
XM_011536971.1:c.352T>G	XP_011535273.1:p.Phe118Val
XM_011536972.1:c.352T>G	XP_011535274.1:p.Phe118Val
XM_011536973.1:c.340T>G	XP_011535275.1:p.Phe114Val
XM_011536974.1:c.340T>G	XP_011535276.1:p.Phe114Val
XM_005267864.3:c.352T>G	XP_005267921.1:p.Phe118Val
XM_005267866.2:c.340T>G	XP_005267923.1:p.Phe114Val
XM_011536972.2:c.352T>G	XP_011535274.1:p.Phe118Val
XM_011536973.2:c.340T>G	XP_011535275.1:p.Phe114Val
XM_011536974.2:c.340T>G	XP_011535276.1:p.Phe114Val
NM_000021.4:c.352T>G MANE Select	NP_000012.1:p.Phe118Val
NM_007318.3:c.340T>G	NP_015557.2:p.Phe114Val