Canonical Allele Identifier: CA2625553118

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136447-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136447C>T , CM000676.2:g.73136447C>T	GRCh38
NC_000014.8:g.73603155C>T , CM000676.1:g.73603155C>T	GRCh37
NC_000014.7:g.72672908C>T	NCBI36
NG_007386.2:g.4977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.-314C>T	ENSP00000452477.2:n.-314C>T
ENST00000556011.6:c.-314C>T	ENSP00000451662.2:n.-314C>T
ENST00000556951.6:c.-268C>T	ENSP00000450551.2:n.-268C>T
ENST00000557293.6:c.-268C>T	ENSP00000451880.2:n.-268C>T
ENST00000700265.1:c.-105C>T	ENSP00000514901.1:n.-105C>T
ENST00000700266.1:c.-272C>T	ENSP00000514902.1:n.-272C>T
ENST00000700267.1:c.-137C>T	ENSP00000514903.1:n.-137C>T
ENST00000700268.1:c.-268C>T	ENSP00000514904.1:n.-268C>T
ENST00000700269.1:c.-314C>T	ENSP00000514905.1:n.-314C>T
ENST00000324501.9:c.-272C>T	ENSP00000326366.5:n.-272C>T
ENST00000357710.8:c.-272C>T	ENSP00000350342.4:n.-272C>T
ENST00000394157.7:c.-272C>T	ENSP00000377712.3:n.-272C>T
ENST00000553599.5:c.-314C>T	ENSP00000452477.1:n.-314C>T
ENST00000553719.5:c.-268C>T	ENSP00000451674.1:n.-268C>T
ENST00000556011.5:c.-314C>T	ENSP00000451662.1:n.-314C>T
ENST00000556533.5:c.-261C>T	ENSP00000452128.1:n.-261C>T
ENST00000556864.5:c.-371C>T	ENSP00000451588.1:n.-371C>T
ENST00000556951.5:c.-268C>T	ENSP00000450551.1:n.-268C>T
ENST00000557293.5:c.-268C>T	ENSP00000451880.1:n.-268C>T
ENST00000557356.5:c.-137C>T	ENSP00000451498.1:n.-137C>T
NM_000021.3:c.-272C>T	NP_000012.1:n.-272C>T
NM_007318.2:c.-272C>T	NP_015557.2:n.-272C>T
XM_005267864.1:c.-268C>T	XP_005267921.1:n.-268C>T
XM_005267866.1:c.-268C>T	XP_005267923.1:n.-268C>T
XM_005267864.3:c.-268C>T	XP_005267921.1:n.-268C>T
XM_005267866.2:c.-268C>T	XP_005267923.1:n.-268C>T