Canonical Allele Identifier: CA708424186

Gene: PSEN1

Linked Data

• dbSNP Id: rs1433359405
• gnomAD v3: 14-73136448-G-C
• gnomAD v4: 14-73136448-G-C
• MyVariant Identifiers: chr14:g.73603156G>C (hg19) ; chr14:g.73136448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136448G>C , CM000676.2:g.73136448G>C	GRCh38
NC_000014.8:g.73603156G>C , CM000676.1:g.73603156G>C	GRCh37
NC_000014.7:g.72672909G>C	NCBI36
NG_007386.2:g.4978G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.-313G>C	ENSP00000452477.2:n.-313G>C
ENST00000556011.6:c.-313G>C	ENSP00000451662.2:n.-313G>C
ENST00000556951.6:c.-267G>C	ENSP00000450551.2:n.-267G>C
ENST00000557293.6:c.-267G>C	ENSP00000451880.2:n.-267G>C
ENST00000700265.1:c.-104G>C	ENSP00000514901.1:n.-104G>C
ENST00000700266.1:c.-271G>C	ENSP00000514902.1:n.-271G>C
ENST00000700267.1:c.-136G>C	ENSP00000514903.1:n.-136G>C
ENST00000700268.1:c.-267G>C	ENSP00000514904.1:n.-267G>C
ENST00000700269.1:c.-313G>C	ENSP00000514905.1:n.-313G>C
ENST00000324501.9:c.-271G>C	ENSP00000326366.5:n.-271G>C
ENST00000357710.8:c.-271G>C	ENSP00000350342.4:n.-271G>C
ENST00000394157.7:c.-271G>C	ENSP00000377712.3:n.-271G>C
ENST00000553599.5:c.-313G>C	ENSP00000452477.1:n.-313G>C
ENST00000553719.5:c.-267G>C	ENSP00000451674.1:n.-267G>C
ENST00000556011.5:c.-313G>C	ENSP00000451662.1:n.-313G>C
ENST00000556533.5:c.-260G>C	ENSP00000452128.1:n.-260G>C
ENST00000556864.5:c.-370G>C	ENSP00000451588.1:n.-370G>C
ENST00000556951.5:c.-267G>C	ENSP00000450551.1:n.-267G>C
ENST00000557293.5:c.-267G>C	ENSP00000451880.1:n.-267G>C
ENST00000557356.5:c.-136G>C	ENSP00000451498.1:n.-136G>C
NM_000021.3:c.-271G>C	NP_000012.1:n.-271G>C
NM_007318.2:c.-271G>C	NP_015557.2:n.-271G>C
XM_005267864.1:c.-267G>C	XP_005267921.1:n.-267G>C
XM_005267866.1:c.-267G>C	XP_005267923.1:n.-267G>C
XM_005267864.3:c.-267G>C	XP_005267921.1:n.-267G>C
XM_005267866.2:c.-267G>C	XP_005267923.1:n.-267G>C