Canonical Allele Identifier: CA390305955

Gene: PSEN1

Linked Data

• MyVariant Identifiers: chr14:g.73685843G>A (hg19) ; chr14:g.73219135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219135G>A , CM000676.2:g.73219135G>A	GRCh38
NC_000014.8:g.73685843G>A , CM000676.1:g.73685843G>A	GRCh37
NC_000014.7:g.72755596G>A	NCBI36
NG_007386.2:g.87665G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.1250G>A MANE Select	ENSP00000326366.5:p.Gly417Asp
ENST00000324501.9:c.1250G>A	ENSP00000326366.5:p.Gly417Asp
ENST00000357710.8:c.1238G>A	ENSP00000350342.4:p.Gly413Asp
ENST00000394164.5:c.1238G>A	ENSP00000377719.1:p.Gly413Asp
ENST00000406768.1:c.974G>A	ENSP00000385948.1:p.Gly325Asp
ENST00000555386.5:c.1330G>A	ENSP00000450845.1:n.1330G>A
ENST00000555867.1:n.615G>A
ENST00000557511.5:c.1076G>A	ENSP00000451429.1:p.Gly359Asp
NM_000021.3:c.1250G>A	NP_000012.1:p.Gly417Asp
NM_007318.2:c.1238G>A	NP_015557.2:p.Gly413Asp
XM_005267864.1:c.1250G>A	XP_005267921.1:p.Gly417Asp
XM_005267866.1:c.1238G>A	XP_005267923.1:p.Gly413Asp
XM_011536971.1:c.1250G>A	XP_011535273.1:p.Gly417Asp
XM_011536972.1:c.1250G>A	XP_011535274.1:p.Gly417Asp
XM_011536973.1:c.1238G>A	XP_011535275.1:p.Gly413Asp
XM_011536974.1:c.1238G>A	XP_011535276.1:p.Gly413Asp
XM_005267864.3:c.1250G>A	XP_005267921.1:p.Gly417Asp
XM_005267866.2:c.1238G>A	XP_005267923.1:p.Gly413Asp
XM_011536972.2:c.1250G>A	XP_011535274.1:p.Gly417Asp
XM_011536973.2:c.1238G>A	XP_011535275.1:p.Gly413Asp
XM_011536974.2:c.1238G>A	XP_011535276.1:p.Gly413Asp
NM_000021.4:c.1250G>A MANE Select	NP_000012.1:p.Gly417Asp
NM_007318.3:c.1238G>A	NP_015557.2:p.Gly413Asp