Canonical Allele Identifier: CA390305279

Gene: PSEN1

Linked Data

• MyVariant Identifiers: chr14:g.73640476G>T (hg19) ; chr14:g.73173768G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73173768G>T , CM000676.2:g.73173768G>T	GRCh38
NC_000014.8:g.73640476G>T , CM000676.1:g.73640476G>T	GRCh37
NC_000014.7:g.72710229G>T	NCBI36
NG_007386.2:g.42298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.468+61G>T	ENSP00000452477.2:n.468+61G>T
ENST00000554131.6:c.480+61G>T	ENSP00000451915.2:n.480+61G>T
ENST00000555386.6:c.468+61G>T	ENSP00000450845.1:n.468+61G>T
ENST00000556066.2:n.906+61G>T
ENST00000556951.6:c.468+61G>T	ENSP00000450551.2:n.468+61G>T
ENST00000557293.6:c.480+61G>T	ENSP00000451880.2:n.480+61G>T
ENST00000559361.6:c.*424+61G>T	ENSP00000454156.1:n.*424+61G>T
ENST00000697912.1:c.468+61G>T	ENSP00000513477.1:n.468+61G>T
ENST00000697913.1:n.734+61G>T
ENST00000700265.1:c.468+61G>T	ENSP00000514901.1:n.468+61G>T
ENST00000700266.1:c.*569+61G>T	ENSP00000514902.1:n.*569+61G>T
ENST00000700267.1:c.480+61G>T	ENSP00000514903.1:n.480+61G>T
ENST00000700268.1:c.480+61G>T	ENSP00000514904.1:n.480+61G>T
ENST00000700269.1:c.480+61G>T	ENSP00000514905.1:n.480+61G>T
ENST00000700270.1:n.736+61G>T
ENST00000700271.1:c.468+61G>T	ENSP00000514906.1:n.468+61G>T
ENST00000700272.1:c.*424+61G>T	ENSP00000514907.1:n.*424+61G>T
ENST00000700273.1:c.468+61G>T	ENSP00000514908.1:n.468+61G>T
ENST00000700302.1:c.480+61G>T	ENSP00000514929.1:n.480+61G>T
ENST00000700303.1:c.*142+61G>T	ENSP00000514930.1:n.*142+61G>T
ENST00000700304.1:c.*424+61G>T	ENSP00000514931.1:n.*424+61G>T
ENST00000700305.1:c.468+61G>T	ENSP00000514932.1:n.468+61G>T
ENST00000700306.1:c.480+61G>T	ENSP00000514933.1:n.480+61G>T
ENST00000700307.1:c.480+61G>T	ENSP00000514934.1:n.480+61G>T
ENST00000700308.1:c.*424+61G>T	ENSP00000514935.1:n.*424+61G>T
ENST00000700309.1:c.*569+61G>T	ENSP00000514936.1:n.*569+61G>T
ENST00000700310.1:c.468+61G>T	ENSP00000514937.1:n.468+61G>T
ENST00000700311.1:c.480+61G>T	ENSP00000514938.1:n.480+61G>T
ENST00000700312.1:c.231+61G>T	ENSP00000514939.1:n.231+61G>T
ENST00000700313.1:c.468+61G>T	ENSP00000514940.1:n.468+61G>T
ENST00000700314.1:c.*419+61G>T	ENSP00000514941.1:n.*419+61G>T
ENST00000700315.1:c.480+61G>T	ENSP00000514942.1:n.480+61G>T
ENST00000700316.1:c.*260+61G>T	ENSP00000514943.1:n.*260+61G>T
ENST00000700317.1:c.480+61G>T	ENSP00000514944.1:n.480+61G>T
ENST00000700318.1:c.*142+61G>T	ENSP00000514945.1:n.*142+61G>T
ENST00000700319.1:c.480+61G>T	ENSP00000514946.1:n.480+61G>T
ENST00000700320.1:c.480+61G>T	ENSP00000514947.1:n.480+61G>T
ENST00000700321.1:c.480+61G>T	ENSP00000514948.1:n.480+61G>T
ENST00000700322.1:c.468+61G>T	ENSP00000514949.1:n.468+61G>T
ENST00000700323.1:c.480+61G>T	ENSP00000514950.1:n.480+61G>T
ENST00000700324.1:c.468+61G>T	ENSP00000514951.1:n.468+61G>T
ENST00000700375.1:c.480+61G>T	ENSP00000514966.1:n.480+61G>T
ENST00000700376.1:n.1064+61G>T
ENST00000700377.1:c.480+61G>T	ENSP00000514967.1:n.480+61G>T
ENST00000700378.1:c.480+61G>T	ENSP00000514968.1:n.480+61G>T
ENST00000700379.1:n.878+61G>T
ENST00000700388.1:n.727+61G>T
ENST00000700389.1:c.468+61G>T	ENSP00000514970.1:n.468+61G>T
ENST00000700390.1:n.2191+61G>T
ENST00000700404.1:n.1363+61G>T
ENST00000700430.1:c.*485G>T	ENSP00000514985.1:n.*485G>T
ENST00000700431.1:c.529G>T	ENSP00000514986.1:p.Val177Phe
ENST00000700432.1:n.837+61G>T
ENST00000700433.1:n.615+61G>T
ENST00000700434.1:n.733+61G>T
ENST00000700435.1:n.615+61G>T
ENST00000700436.1:c.480+61G>T	ENSP00000514987.1:n.480+61G>T
ENST00000700437.1:c.231+61G>T	ENSP00000514988.1:n.231+61G>T
ENST00000700467.1:n.615+61G>T
ENST00000700468.1:c.468+61G>T	ENSP00000515001.1:n.468+61G>T
ENST00000700469.1:c.468+61G>T	ENSP00000515002.1:n.468+61G>T
ENST00000324501.10:c.480+61G>T MANE Select	ENSP00000326366.5:n.480+61G>T
ENST00000324501.9:c.480+61G>T	ENSP00000326366.5:n.480+61G>T
ENST00000357710.8:c.468+61G>T	ENSP00000350342.4:n.468+61G>T
ENST00000394157.7:c.541G>T	ENSP00000377712.3:p.Val181Phe
ENST00000394164.5:c.468+61G>T	ENSP00000377719.1:n.468+61G>T
ENST00000406768.1:c.204+61G>T	ENSP00000385948.1:n.204+61G>T
ENST00000553855.5:c.480+61G>T	ENSP00000452242.1:n.480+61G>T
ENST00000555386.5:c.468+61G>T	ENSP00000450845.1:n.468+61G>T
ENST00000557511.5:c.480+61G>T	ENSP00000451429.1:n.480+61G>T
NM_000021.3:c.480+61G>T	NP_000012.1:n.480+61G>T
NM_007318.2:c.468+61G>T	NP_015557.2:n.468+61G>T
XM_005267864.1:c.480+61G>T	XP_005267921.1:n.480+61G>T
XM_005267866.1:c.468+61G>T	XP_005267923.1:n.468+61G>T
XM_011536971.1:c.480+61G>T	XP_011535273.1:n.480+61G>T
XM_011536972.1:c.480+61G>T	XP_011535274.1:n.480+61G>T
XM_011536973.1:c.468+61G>T	XP_011535275.1:n.468+61G>T
XM_011536974.1:c.468+61G>T	XP_011535276.1:n.468+61G>T
XM_005267864.3:c.480+61G>T	XP_005267921.1:n.480+61G>T
XM_005267866.2:c.468+61G>T	XP_005267923.1:n.468+61G>T
XM_011536972.2:c.480+61G>T	XP_011535274.1:n.480+61G>T
XM_011536973.2:c.468+61G>T	XP_011535275.1:n.468+61G>T
XM_011536974.2:c.468+61G>T	XP_011535276.1:n.468+61G>T
NM_000021.4:c.480+61G>T MANE Select	NP_000012.1:n.480+61G>T
NM_007318.3:c.468+61G>T	NP_015557.2:n.468+61G>T