Canonical Allele Identifier: CA2625553380

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73136497-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136497G>T , CM000676.2:g.73136497G>T	GRCh38
NC_000014.8:g.73603205G>T , CM000676.1:g.73603205G>T	GRCh37
NC_000014.7:g.72672958G>T	NCBI36
NG_007386.2:g.5027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553447.7:c.-259G>T	ENSP00000514869.1:n.-259G>T
ENST00000553599.6:c.-264G>T	ENSP00000452477.2:n.-264G>T
ENST00000554131.6:c.-263G>T	ENSP00000451915.2:n.-263G>T
ENST00000555386.6:c.-222G>T	ENSP00000450845.1:n.-222G>T
ENST00000556011.6:c.-264G>T	ENSP00000451662.2:n.-264G>T
ENST00000556951.6:c.-218G>T	ENSP00000450551.2:n.-218G>T
ENST00000557293.6:c.-218G>T	ENSP00000451880.2:n.-218G>T
ENST00000697912.1:c.-222G>T	ENSP00000513477.1:n.-222G>T
ENST00000697913.1:n.33G>T
ENST00000700265.1:c.-104+49G>T	ENSP00000514901.1:n.-104+49G>T
ENST00000700266.1:c.-222G>T	ENSP00000514902.1:n.-222G>T
ENST00000700267.1:c.-136+49G>T	ENSP00000514903.1:n.-136+49G>T
ENST00000700268.1:c.-218G>T	ENSP00000514904.1:n.-218G>T
ENST00000700269.1:c.-264G>T	ENSP00000514905.1:n.-264G>T
ENST00000700270.1:n.47G>T
ENST00000700271.1:c.-222G>T	ENSP00000514906.1:n.-222G>T
ENST00000700272.1:c.-218G>T	ENSP00000514907.1:n.-218G>T
ENST00000700273.1:c.-264G>T	ENSP00000514908.1:n.-264G>T
ENST00000700302.1:c.-222G>T	ENSP00000514929.1:n.-222G>T
ENST00000700303.1:c.-222G>T	ENSP00000514930.1:n.-222G>T
ENST00000700304.1:c.-222G>T	ENSP00000514931.1:n.-222G>T
ENST00000700305.1:c.-222G>T	ENSP00000514932.1:n.-222G>T
ENST00000700306.1:c.-264G>T	ENSP00000514933.1:n.-264G>T
ENST00000700307.1:c.-222G>T	ENSP00000514934.1:n.-222G>T
ENST00000700308.1:c.-222G>T	ENSP00000514935.1:n.-222G>T
ENST00000700309.1:c.-222G>T	ENSP00000514936.1:n.-222G>T
ENST00000700374.1:n.37G>T
ENST00000700388.1:n.26G>T
ENST00000700389.1:c.-387G>T	ENSP00000514970.1:n.-387G>T
ENST00000324501.9:c.-222G>T	ENSP00000326366.5:n.-222G>T
ENST00000357710.8:c.-222G>T	ENSP00000350342.4:n.-222G>T
ENST00000394157.7:c.-222G>T	ENSP00000377712.3:n.-222G>T
ENST00000553447.6:n.21G>T
ENST00000553599.5:c.-264G>T	ENSP00000452477.1:n.-264G>T
ENST00000553719.5:c.-218G>T	ENSP00000451674.1:n.-218G>T
ENST00000554131.5:c.-263G>T	ENSP00000451915.1:n.-263G>T
ENST00000555254.5:c.-246G>T	ENSP00000450652.1:n.-246G>T
ENST00000556011.5:c.-264G>T	ENSP00000451662.1:n.-264G>T
ENST00000556533.5:c.-211G>T	ENSP00000452128.1:n.-211G>T
ENST00000556864.5:c.-321G>T	ENSP00000451588.1:n.-321G>T
ENST00000556951.5:c.-218G>T	ENSP00000450551.1:n.-218G>T
ENST00000557293.5:c.-218G>T	ENSP00000451880.1:n.-218G>T
ENST00000557356.5:c.-136+49G>T	ENSP00000451498.1:n.-136+49G>T
ENST00000560005.6:c.-324G>T	ENSP00000453466.1:n.-324G>T
NM_000021.3:c.-222G>T	NP_000012.1:n.-222G>T
NM_007318.2:c.-222G>T	NP_015557.2:n.-222G>T
XM_005267864.1:c.-218G>T	XP_005267921.1:n.-218G>T
XM_005267866.1:c.-218G>T	XP_005267923.1:n.-218G>T
XM_005267864.3:c.-218G>T	XP_005267921.1:n.-218G>T
XM_005267866.2:c.-218G>T	XP_005267923.1:n.-218G>T