Canonical Allele Identifier: CA2625553197

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136476-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136476C>A , CM000676.2:g.73136476C>A	GRCh38
NC_000014.8:g.73603184C>A , CM000676.1:g.73603184C>A	GRCh37
NC_000014.7:g.72672937C>A	NCBI36
NG_007386.2:g.5006C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.-285C>A	ENSP00000452477.2:n.-285C>A
ENST00000555386.6:c.-243C>A	ENSP00000450845.1:n.-243C>A
ENST00000556011.6:c.-285C>A	ENSP00000451662.2:n.-285C>A
ENST00000556951.6:c.-239C>A	ENSP00000450551.2:n.-239C>A
ENST00000557293.6:c.-239C>A	ENSP00000451880.2:n.-239C>A
ENST00000697912.1:c.-243C>A	ENSP00000513477.1:n.-243C>A
ENST00000697913.1:n.12C>A
ENST00000700265.1:c.-104+28C>A	ENSP00000514901.1:n.-104+28C>A
ENST00000700266.1:c.-243C>A	ENSP00000514902.1:n.-243C>A
ENST00000700267.1:c.-136+28C>A	ENSP00000514903.1:n.-136+28C>A
ENST00000700268.1:c.-239C>A	ENSP00000514904.1:n.-239C>A
ENST00000700269.1:c.-285C>A	ENSP00000514905.1:n.-285C>A
ENST00000700270.1:n.26C>A
ENST00000700271.1:c.-243C>A	ENSP00000514906.1:n.-243C>A
ENST00000700272.1:c.-239C>A	ENSP00000514907.1:n.-239C>A
ENST00000700273.1:c.-285C>A	ENSP00000514908.1:n.-285C>A
ENST00000700302.1:c.-243C>A	ENSP00000514929.1:n.-243C>A
ENST00000700303.1:c.-243C>A	ENSP00000514930.1:n.-243C>A
ENST00000700304.1:c.-243C>A	ENSP00000514931.1:n.-243C>A
ENST00000700305.1:c.-243C>A	ENSP00000514932.1:n.-243C>A
ENST00000700306.1:c.-285C>A	ENSP00000514933.1:n.-285C>A
ENST00000700374.1:n.16C>A
ENST00000700388.1:n.5C>A
ENST00000700389.1:c.-408C>A	ENSP00000514970.1:n.-408C>A
ENST00000324501.9:c.-243C>A	ENSP00000326366.5:n.-243C>A
ENST00000357710.8:c.-243C>A	ENSP00000350342.4:n.-243C>A
ENST00000394157.7:c.-243C>A	ENSP00000377712.3:n.-243C>A
ENST00000553599.5:c.-285C>A	ENSP00000452477.1:n.-285C>A
ENST00000553719.5:c.-239C>A	ENSP00000451674.1:n.-239C>A
ENST00000555254.5:c.-267C>A	ENSP00000450652.1:n.-267C>A
ENST00000556011.5:c.-285C>A	ENSP00000451662.1:n.-285C>A
ENST00000556533.5:c.-232C>A	ENSP00000452128.1:n.-232C>A
ENST00000556864.5:c.-342C>A	ENSP00000451588.1:n.-342C>A
ENST00000556951.5:c.-239C>A	ENSP00000450551.1:n.-239C>A
ENST00000557293.5:c.-239C>A	ENSP00000451880.1:n.-239C>A
ENST00000557356.5:c.-136+28C>A	ENSP00000451498.1:n.-136+28C>A
ENST00000560005.6:c.-345C>A	ENSP00000453466.1:n.-345C>A
NM_000021.3:c.-243C>A	NP_000012.1:n.-243C>A
NM_007318.2:c.-243C>A	NP_015557.2:n.-243C>A
XM_005267864.1:c.-239C>A	XP_005267921.1:n.-239C>A
XM_005267866.1:c.-239C>A	XP_005267923.1:n.-239C>A
XM_005267864.3:c.-239C>A	XP_005267921.1:n.-239C>A
XM_005267866.2:c.-239C>A	XP_005267923.1:n.-239C>A