Canonical Allele Identifier: CA390304747

Gene: PSEN1

Linked Data

• MyVariant Identifiers: chr14:g.73640300C>G (hg19) ; chr14:g.73173592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73173592C>G , CM000676.2:g.73173592C>G	GRCh38
NC_000014.8:g.73640300C>G , CM000676.1:g.73640300C>G	GRCh37
NC_000014.7:g.72710053C>G	NCBI36
NG_007386.2:g.42122C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.365C>G MANE Select	ENSP00000326366.5:p.Thr122Ser
ENST00000324501.9:c.365C>G	ENSP00000326366.5:p.Thr122Ser
ENST00000357710.8:c.353C>G	ENSP00000350342.4:p.Thr118Ser
ENST00000394157.7:c.365C>G	ENSP00000377712.3:p.Thr122Ser
ENST00000394164.5:c.353C>G	ENSP00000377719.1:p.Thr118Ser
ENST00000406768.1:c.89C>G	ENSP00000385948.1:p.Thr30Ser
ENST00000553719.5:c.353C>G	ENSP00000451674.1:p.Thr118Ser
ENST00000553855.5:n.365C>G	ENSP00000452242.1:p.Thr122Ser
ENST00000555254.5:c.365C>G	ENSP00000450652.1:p.Thr122Ser
ENST00000555386.5:n.353C>G	ENSP00000450845.1:p.Thr118Ser
ENST00000557356.5:c.353C>G	ENSP00000451498.1:p.Thr118Ser
ENST00000557511.5:n.365C>G	ENSP00000451429.1:p.Thr122Ser
ENST00000559361.5:c.*309C>G	ENSP00000454156.1:n.*309C>G
NM_000021.3:c.365C>G	NP_000012.1:p.Thr122Ser
NM_007318.2:c.353C>G	NP_015557.2:p.Thr118Ser
XM_005267864.1:c.365C>G	XP_005267921.1:p.Thr122Ser
XM_005267866.1:c.353C>G	XP_005267923.1:p.Thr118Ser
XM_011536971.1:c.365C>G	XP_011535273.1:p.Thr122Ser
XM_011536972.1:c.365C>G	XP_011535274.1:p.Thr122Ser
XM_011536973.1:c.353C>G	XP_011535275.1:p.Thr118Ser
XM_011536974.1:c.353C>G	XP_011535276.1:p.Thr118Ser
XM_005267864.3:c.365C>G	XP_005267921.1:p.Thr122Ser
XM_005267866.2:c.353C>G	XP_005267923.1:p.Thr118Ser
XM_011536972.2:c.365C>G	XP_011535274.1:p.Thr122Ser
XM_011536973.2:c.353C>G	XP_011535275.1:p.Thr118Ser
XM_011536974.2:c.353C>G	XP_011535276.1:p.Thr118Ser
NM_000021.4:c.365C>G MANE Select	NP_000012.1:p.Thr122Ser
NM_007318.3:c.353C>G	NP_015557.2:p.Thr118Ser