Canonical Allele Identifier: CA390306118

Gene: PSEN1

Linked Data

• dbSNP Id: rs764128019
• gnomAD v2: 14-73685923-G-A
• gnomAD v4: 14-73219215-G-A
• MyVariant Identifiers: chr14:g.73685923G>A (hg19) ; chr14:g.73219215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219215G>A , CM000676.2:g.73219215G>A	GRCh38
NC_000014.8:g.73685923G>A , CM000676.1:g.73685923G>A	GRCh37
NC_000014.7:g.72755676G>A	NCBI36
NG_007386.2:g.87745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.1318G>A	ENSP00000452477.2:p.Val440Ile
ENST00000554131.6:c.1330G>A	ENSP00000451915.2:p.Val444Ile
ENST00000554995.2:n.2080G>A
ENST00000555386.6:c.*285G>A	ENSP00000450845.1:n.*285G>A
ENST00000556066.2:n.1756G>A
ENST00000556951.6:c.1318G>A	ENSP00000450551.2:p.Val440Ile
ENST00000557293.6:c.1210G>A	ENSP00000451880.2:p.Val404Ile
ENST00000559361.6:c.*1274G>A	ENSP00000454156.1:n.*1274G>A
ENST00000697912.1:c.*518G>A	ENSP00000513477.1:n.*518G>A
ENST00000697913.1:n.6880G>A
ENST00000697915.1:n.687G>A
ENST00000700265.1:c.1318G>A	ENSP00000514901.1:p.Val440Ile
ENST00000700266.1:c.*1542G>A	ENSP00000514902.1:n.*1542G>A
ENST00000700267.1:c.1330G>A	ENSP00000514903.1:p.Val444Ile
ENST00000700268.1:c.1330G>A	ENSP00000514904.1:p.Val444Ile
ENST00000700269.1:c.1330G>A	ENSP00000514905.1:p.Val444Ile
ENST00000700271.1:c.1144G>A	ENSP00000514906.1:p.Val382Ile
ENST00000700272.1:c.*1274G>A	ENSP00000514907.1:n.*1274G>A
ENST00000700273.1:c.1318G>A	ENSP00000514908.1:p.Val440Ile
ENST00000700302.1:c.*146G>A	ENSP00000514929.1:n.*146G>A
ENST00000700303.1:c.*992G>A	ENSP00000514930.1:n.*992G>A
ENST00000700304.1:c.*1274G>A	ENSP00000514931.1:n.*1274G>A
ENST00000700305.1:c.*888G>A	ENSP00000514932.1:n.*888G>A
ENST00000700306.1:c.1330G>A	ENSP00000514933.1:p.Val444Ile
ENST00000700307.1:c.1231G>A	ENSP00000514934.1:p.Val411Ile
ENST00000700308.1:c.*1274G>A	ENSP00000514935.1:n.*1274G>A
ENST00000700309.1:c.*1419G>A	ENSP00000514936.1:n.*1419G>A
ENST00000700310.1:c.*285G>A	ENSP00000514937.1:n.*285G>A
ENST00000700311.1:c.*146G>A	ENSP00000514938.1:n.*146G>A
ENST00000700312.1:c.1081G>A	ENSP00000514939.1:p.Val361Ile
ENST00000700313.1:c.1318G>A	ENSP00000514940.1:p.Val440Ile
ENST00000700314.1:c.*1269G>A	ENSP00000514941.1:n.*1269G>A
ENST00000700315.1:c.*888G>A	ENSP00000514942.1:n.*888G>A
ENST00000700316.1:c.*1110G>A	ENSP00000514943.1:n.*1110G>A
ENST00000700317.1:c.1330G>A	ENSP00000514944.1:p.Val444Ile
ENST00000700318.1:c.*992G>A	ENSP00000514945.1:n.*992G>A
ENST00000700319.1:c.*770G>A	ENSP00000514946.1:n.*770G>A
ENST00000700320.1:c.1357G>A	ENSP00000514947.1:p.Val453Ile
ENST00000700321.1:c.1330G>A	ENSP00000514948.1:p.Val444Ile
ENST00000700322.1:c.1318G>A	ENSP00000514949.1:p.Val440Ile
ENST00000700323.1:c.1330G>A	ENSP00000514950.1:p.Val444Ile
ENST00000700324.1:c.1318G>A	ENSP00000514951.1:p.Val440Ile
ENST00000700375.1:c.1330G>A	ENSP00000514966.1:p.Val444Ile
ENST00000700377.1:c.*798G>A	ENSP00000514967.1:n.*798G>A
ENST00000700378.1:c.1330G>A	ENSP00000514968.1:p.Val444Ile
ENST00000700379.1:n.1728G>A
ENST00000700389.1:c.1318G>A	ENSP00000514970.1:p.Val440Ile
ENST00000700390.1:n.3041G>A
ENST00000700391.1:n.541G>A
ENST00000700404.1:n.2329G>A
ENST00000700436.1:c.*285G>A	ENSP00000514987.1:n.*285G>A
ENST00000700437.1:c.1081G>A	ENSP00000514988.1:p.Val361Ile
ENST00000700468.1:c.1219G>A	ENSP00000515001.1:p.Val407Ile
ENST00000700469.1:c.1318G>A	ENSP00000515002.1:p.Val440Ile
ENST00000324501.10:c.1330G>A MANE Select	ENSP00000326366.5:p.Val444Ile
ENST00000324501.9:c.1330G>A	ENSP00000326366.5:p.Val444Ile
ENST00000357710.8:c.1318G>A	ENSP00000350342.4:p.Val440Ile
ENST00000394164.5:c.1318G>A	ENSP00000377719.1:p.Val440Ile
ENST00000406768.1:c.1054G>A	ENSP00000385948.1:p.Val352Ile
ENST00000555386.5:c.1410G>A	ENSP00000450845.1:n.1410G>A
ENST00000555867.1:n.695G>A
ENST00000557511.5:c.1156G>A	ENSP00000451429.1:p.Val386Ile
NM_000021.3:c.1330G>A	NP_000012.1:p.Val444Ile
NM_007318.2:c.1318G>A	NP_015557.2:p.Val440Ile
XM_005267864.1:c.1330G>A	XP_005267921.1:p.Val444Ile
XM_005267866.1:c.1318G>A	XP_005267923.1:p.Val440Ile
XM_011536971.1:c.1330G>A	XP_011535273.1:p.Val444Ile
XM_011536972.1:c.1330G>A	XP_011535274.1:p.Val444Ile
XM_011536973.1:c.1318G>A	XP_011535275.1:p.Val440Ile
XM_011536974.1:c.1318G>A	XP_011535276.1:p.Val440Ile
XM_005267864.3:c.1330G>A	XP_005267921.1:p.Val444Ile
XM_005267866.2:c.1318G>A	XP_005267923.1:p.Val440Ile
XM_011536972.2:c.1330G>A	XP_011535274.1:p.Val444Ile
XM_011536973.2:c.1318G>A	XP_011535275.1:p.Val440Ile
XM_011536974.2:c.1318G>A	XP_011535276.1:p.Val440Ile
NM_000021.4:c.1330G>A MANE Select	NP_000012.1:p.Val444Ile
NM_007318.3:c.1318G>A	NP_015557.2:p.Val440Ile