Canonical Allele Identifier: CA708424180

Gene: PSEN1

Linked Data

• dbSNP Id: rs1184788428
• gnomAD v3: 14-73136440-A-T
• gnomAD v4: 14-73136440-A-T
• MyVariant Identifiers: chr14:g.73603148A>T (hg19) ; chr14:g.73136440A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136440A>T , CM000676.2:g.73136440A>T	GRCh38
NC_000014.8:g.73603148A>T , CM000676.1:g.73603148A>T	GRCh37
NC_000014.7:g.72672901A>T	NCBI36
NG_007386.2:g.4970A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556951.6:c.-275A>T	ENSP00000450551.2:n.-275A>T
ENST00000557293.6:c.-275A>T	ENSP00000451880.2:n.-275A>T
ENST00000700265.1:c.-112A>T	ENSP00000514901.1:n.-112A>T
ENST00000700266.1:c.-279A>T	ENSP00000514902.1:n.-279A>T
ENST00000700267.1:c.-144A>T	ENSP00000514903.1:n.-144A>T
ENST00000700268.1:c.-275A>T	ENSP00000514904.1:n.-275A>T
ENST00000556533.5:c.-268A>T	ENSP00000452128.1:n.-268A>T
ENST00000556864.5:c.-378A>T	ENSP00000451588.1:n.-378A>T
ENST00000556951.5:c.-275A>T	ENSP00000450551.1:n.-275A>T
ENST00000557293.5:c.-275A>T	ENSP00000451880.1:n.-275A>T
ENST00000557356.5:c.-144A>T	ENSP00000451498.1:n.-144A>T
NM_000021.3:c.-279A>T	NP_000012.1:n.-279A>T
NM_007318.2:c.-279A>T	NP_015557.2:n.-279A>T
XM_005267864.1:c.-275A>T	XP_005267921.1:n.-275A>T
XM_005267866.1:c.-275A>T	XP_005267923.1:n.-275A>T
XM_005267866.2:c.-275A>T	XP_005267923.1:n.-275A>T