Canonical Allele Identifier: CA390305951

Gene: PSEN1

Linked Data

• MyVariant Identifiers: chr14:g.73685841G>C (hg19) ; chr14:g.73219133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219133G>C , CM000676.2:g.73219133G>C	GRCh38
NC_000014.8:g.73685841G>C , CM000676.1:g.73685841G>C	GRCh37
NC_000014.7:g.72755594G>C	NCBI36
NG_007386.2:g.87663G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324501.10:c.1249-1G>C MANE Select	ENSP00000326366.5:n.1249-1G>C
ENST00000324501.9:c.1249-1G>C	ENSP00000326366.5:n.1249-1G>C
ENST00000357710.8:c.1237-1G>C	ENSP00000350342.4:n.1237-1G>C
ENST00000394164.5:c.1237-1G>C	ENSP00000377719.1:n.1237-1G>C
ENST00000406768.1:c.973-1G>C	ENSP00000385948.1:n.973-1G>C
ENST00000555386.5:c.1329-1G>C	ENSP00000450845.1:n.1329-1G>C
ENST00000555867.1:n.614-1G>C
ENST00000557511.5:c.1075-1G>C	ENSP00000451429.1:n.1075-1G>C
NM_000021.3:c.1249-1G>C	NP_000012.1:n.1249-1G>C
NM_007318.2:c.1237-1G>C	NP_015557.2:n.1237-1G>C
XM_005267864.1:c.1249-1G>C	XP_005267921.1:n.1249-1G>C
XM_005267866.1:c.1237-1G>C	XP_005267923.1:n.1237-1G>C
XM_011536971.1:c.1249-1G>C	XP_011535273.1:n.1249-1G>C
XM_011536972.1:c.1249-1G>C	XP_011535274.1:n.1249-1G>C
XM_011536973.1:c.1237-1G>C	XP_011535275.1:n.1237-1G>C
XM_011536974.1:c.1237-1G>C	XP_011535276.1:n.1237-1G>C
XM_005267864.3:c.1249-1G>C	XP_005267921.1:n.1249-1G>C
XM_005267866.2:c.1237-1G>C	XP_005267923.1:n.1237-1G>C
XM_011536972.2:c.1249-1G>C	XP_011535274.1:n.1249-1G>C
XM_011536973.2:c.1237-1G>C	XP_011535275.1:n.1237-1G>C
XM_011536974.2:c.1237-1G>C	XP_011535276.1:n.1237-1G>C
NM_000021.4:c.1249-1G>C MANE Select	NP_000012.1:n.1249-1G>C
NM_007318.3:c.1237-1G>C	NP_015557.2:n.1237-1G>C