Canonical Allele Identifier: CA2625553101

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136441-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136441C>A , CM000676.2:g.73136441C>A	GRCh38
NC_000014.8:g.73603149C>A , CM000676.1:g.73603149C>A	GRCh37
NC_000014.7:g.72672902C>A	NCBI36
NG_007386.2:g.4971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556951.6:c.-274C>A	ENSP00000450551.2:n.-274C>A
ENST00000557293.6:c.-274C>A	ENSP00000451880.2:n.-274C>A
ENST00000700265.1:c.-111C>A	ENSP00000514901.1:n.-111C>A
ENST00000700266.1:c.-278C>A	ENSP00000514902.1:n.-278C>A
ENST00000700267.1:c.-143C>A	ENSP00000514903.1:n.-143C>A
ENST00000700268.1:c.-274C>A	ENSP00000514904.1:n.-274C>A
ENST00000556533.5:c.-267C>A	ENSP00000452128.1:n.-267C>A
ENST00000556864.5:c.-377C>A	ENSP00000451588.1:n.-377C>A
ENST00000556951.5:c.-274C>A	ENSP00000450551.1:n.-274C>A
ENST00000557293.5:c.-274C>A	ENSP00000451880.1:n.-274C>A
ENST00000557356.5:c.-143C>A	ENSP00000451498.1:n.-143C>A
NM_000021.3:c.-278C>A	NP_000012.1:n.-278C>A
NM_007318.2:c.-278C>A	NP_015557.2:n.-278C>A
XM_005267864.1:c.-274C>A	XP_005267921.1:n.-274C>A
XM_005267866.1:c.-274C>A	XP_005267923.1:n.-274C>A
XM_005267866.2:c.-274C>A	XP_005267923.1:n.-274C>A