Canonical Allele Identifier: CA225187

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 98116
• ClinVar RCV Id: RCV000084415 ; RCV002470762
• dbSNP Id: rs63750249
• gnomAD v2: 14:73685908 A / G
• gnomAD v3: 14:73219200 A / G
• gnomAD v4: 14:73219200 A / G
• MyVariant Identifiers: chr14:g.73685908A>G (hg19) ; chr14:g.73219200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219200A>G , CM000676.2:g.73219200A>G	GRCh38
NC_000014.8:g.73685908A>G , CM000676.1:g.73685908A>G	GRCh37
NC_000014.7:g.72755661A>G	NCBI36
NG_007386.2:g.87730A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.1315A>G MANE Select	ENSP00000326366.5:p.Ile439Val
ENST00000324501.9:c.1315A>G	ENSP00000326366.5:p.Ile439Val
ENST00000357710.8:c.1303A>G	ENSP00000350342.4:p.Ile435Val
ENST00000394164.5:c.1303A>G	ENSP00000377719.1:p.Ile435Val
ENST00000406768.1:c.1039A>G	ENSP00000385948.1:p.Ile347Val
ENST00000555386.5:c.1395A>G	ENSP00000450845.1:n.1395A>G
ENST00000555867.1:n.680A>G
ENST00000557511.5:c.1141A>G	ENSP00000451429.1:p.Ile381Val
NM_000021.3:c.1315A>G	NP_000012.1:p.Ile439Val
NM_007318.2:c.1303A>G	NP_015557.2:p.Ile435Val
XM_005267864.1:c.1315A>G	XP_005267921.1:p.Ile439Val
XM_005267866.1:c.1303A>G	XP_005267923.1:p.Ile435Val
XM_011536971.1:c.1315A>G	XP_011535273.1:p.Ile439Val
XM_011536972.1:c.1315A>G	XP_011535274.1:p.Ile439Val
XM_011536973.1:c.1303A>G	XP_011535275.1:p.Ile435Val
XM_011536974.1:c.1303A>G	XP_011535276.1:p.Ile435Val
XM_005267864.3:c.1315A>G	XP_005267921.1:p.Ile439Val
XM_005267866.2:c.1303A>G	XP_005267923.1:p.Ile435Val
XM_011536972.2:c.1315A>G	XP_011535274.1:p.Ile439Val
XM_011536973.2:c.1303A>G	XP_011535275.1:p.Ile435Val
XM_011536974.2:c.1303A>G	XP_011535276.1:p.Ile435Val
NM_000021.4:c.1315A>G MANE Select	NP_000012.1:p.Ile439Val
NM_007318.3:c.1303A>G	NP_015557.2:p.Ile435Val