Canonical Allele Identifier: CA262598422

Gene: PSEN1

Linked Data

• dbSNP Id: rs202004275
• gnomAD v4: 14-73136464-C-T
• MyVariant Identifiers: chr14:g.73603172C>T (hg19) ; chr14:g.73136464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136464C>T , CM000676.2:g.73136464C>T	GRCh38
NC_000014.8:g.73603172C>T , CM000676.1:g.73603172C>T	GRCh37
NC_000014.7:g.72672925C>T	NCBI36
NG_007386.2:g.4994C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.-297C>T	ENSP00000452477.2:n.-297C>T
ENST00000555386.6:c.-255C>T	ENSP00000450845.1:n.-255C>T
ENST00000556011.6:c.-297C>T	ENSP00000451662.2:n.-297C>T
ENST00000556951.6:c.-251C>T	ENSP00000450551.2:n.-251C>T
ENST00000557293.6:c.-251C>T	ENSP00000451880.2:n.-251C>T
ENST00000697912.1:c.-255C>T	ENSP00000513477.1:n.-255C>T
ENST00000700265.1:c.-104+16C>T	ENSP00000514901.1:n.-104+16C>T
ENST00000700266.1:c.-255C>T	ENSP00000514902.1:n.-255C>T
ENST00000700267.1:c.-136+16C>T	ENSP00000514903.1:n.-136+16C>T
ENST00000700268.1:c.-251C>T	ENSP00000514904.1:n.-251C>T
ENST00000700269.1:c.-297C>T	ENSP00000514905.1:n.-297C>T
ENST00000700270.1:n.14C>T
ENST00000700271.1:c.-255C>T	ENSP00000514906.1:n.-255C>T
ENST00000700272.1:c.-251C>T	ENSP00000514907.1:n.-251C>T
ENST00000700273.1:c.-297C>T	ENSP00000514908.1:n.-297C>T
ENST00000700302.1:c.-255C>T	ENSP00000514929.1:n.-255C>T
ENST00000700303.1:c.-255C>T	ENSP00000514930.1:n.-255C>T
ENST00000700304.1:c.-255C>T	ENSP00000514931.1:n.-255C>T
ENST00000700305.1:c.-255C>T	ENSP00000514932.1:n.-255C>T
ENST00000700374.1:n.4C>T
ENST00000324501.9:c.-255C>T	ENSP00000326366.5:n.-255C>T
ENST00000357710.8:c.-255C>T	ENSP00000350342.4:n.-255C>T
ENST00000394157.7:c.-255C>T	ENSP00000377712.3:n.-255C>T
ENST00000553599.5:c.-297C>T	ENSP00000452477.1:n.-297C>T
ENST00000553719.5:c.-251C>T	ENSP00000451674.1:n.-251C>T
ENST00000555254.5:c.-279C>T	ENSP00000450652.1:n.-279C>T
ENST00000556011.5:c.-297C>T	ENSP00000451662.1:n.-297C>T
ENST00000556533.5:c.-244C>T	ENSP00000452128.1:n.-244C>T
ENST00000556864.5:c.-354C>T	ENSP00000451588.1:n.-354C>T
ENST00000556951.5:c.-251C>T	ENSP00000450551.1:n.-251C>T
ENST00000557293.5:c.-251C>T	ENSP00000451880.1:n.-251C>T
ENST00000557356.5:c.-136+16C>T	ENSP00000451498.1:n.-136+16C>T
ENST00000560005.6:c.-357C>T	ENSP00000453466.1:n.-357C>T
NM_000021.3:c.-255C>T	NP_000012.1:n.-255C>T
NM_007318.2:c.-255C>T	NP_015557.2:n.-255C>T
XM_005267864.1:c.-251C>T	XP_005267921.1:n.-251C>T
XM_005267866.1:c.-251C>T	XP_005267923.1:n.-251C>T
XM_005267864.3:c.-251C>T	XP_005267921.1:n.-251C>T
XM_005267866.2:c.-251C>T	XP_005267923.1:n.-251C>T