Canonical Allele Identifier: CA2146453837

Gene: PSEN1

Linked Data

• dbSNP Id: rs1594949420
• gnomAD v4: 14-73136442-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136442G>A , CM000676.2:g.73136442G>A	GRCh38
NC_000014.8:g.73603150G>A , CM000676.1:g.73603150G>A	GRCh37
NC_000014.7:g.72672903G>A	NCBI36
NG_007386.2:g.4972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556951.6:c.-273G>A	ENSP00000450551.2:n.-273G>A
ENST00000557293.6:c.-273G>A	ENSP00000451880.2:n.-273G>A
ENST00000700265.1:c.-110G>A	ENSP00000514901.1:n.-110G>A
ENST00000700266.1:c.-277G>A	ENSP00000514902.1:n.-277G>A
ENST00000700267.1:c.-142G>A	ENSP00000514903.1:n.-142G>A
ENST00000700268.1:c.-273G>A	ENSP00000514904.1:n.-273G>A
ENST00000556533.5:c.-266G>A	ENSP00000452128.1:n.-266G>A
ENST00000556864.5:c.-376G>A	ENSP00000451588.1:n.-376G>A
ENST00000556951.5:c.-273G>A	ENSP00000450551.1:n.-273G>A
ENST00000557293.5:c.-273G>A	ENSP00000451880.1:n.-273G>A
ENST00000557356.5:c.-142G>A	ENSP00000451498.1:n.-142G>A
NM_000021.3:c.-277G>A	NP_000012.1:n.-277G>A
NM_007318.2:c.-277G>A	NP_015557.2:n.-277G>A
XM_005267864.1:c.-273G>A	XP_005267921.1:n.-273G>A
XM_005267866.1:c.-273G>A	XP_005267923.1:n.-273G>A
XM_005267866.2:c.-273G>A	XP_005267923.1:n.-273G>A