Canonical Allele Identifier: CA708424175

Gene: PSEN1

Linked Data

• dbSNP Id: rs1245306660
• gnomAD v3: 14-73136439-G-T
• gnomAD v4: 14-73136439-G-T
• MyVariant Identifiers: chr14:g.73603147G>T (hg19) ; chr14:g.73136439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136439G>T , CM000676.2:g.73136439G>T	GRCh38
NC_000014.8:g.73603147G>T , CM000676.1:g.73603147G>T	GRCh37
NC_000014.7:g.72672900G>T	NCBI36
NG_007386.2:g.4969G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556951.6:c.-276G>T	ENSP00000450551.2:n.-276G>T
ENST00000557293.6:c.-276G>T	ENSP00000451880.2:n.-276G>T
ENST00000700265.1:c.-113G>T	ENSP00000514901.1:n.-113G>T
ENST00000700266.1:c.-280G>T	ENSP00000514902.1:n.-280G>T
ENST00000700267.1:c.-145G>T	ENSP00000514903.1:n.-145G>T
ENST00000700268.1:c.-276G>T	ENSP00000514904.1:n.-276G>T
ENST00000556533.5:c.-269G>T	ENSP00000452128.1:n.-269G>T
ENST00000556864.5:c.-379G>T	ENSP00000451588.1:n.-379G>T
ENST00000556951.5:c.-276G>T	ENSP00000450551.1:n.-276G>T
ENST00000557293.5:c.-276G>T	ENSP00000451880.1:n.-276G>T
ENST00000557356.5:c.-145G>T	ENSP00000451498.1:n.-145G>T
NM_000021.3:c.-280G>T	NP_000012.1:n.-280G>T
NM_007318.2:c.-280G>T	NP_015557.2:n.-280G>T
XM_005267864.1:c.-276G>T	XP_005267921.1:n.-276G>T
XM_005267866.1:c.-276G>T	XP_005267923.1:n.-276G>T
XM_005267866.2:c.-276G>T	XP_005267923.1:n.-276G>T