Canonical Allele Identifier: CA7256974

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 1609857
• ClinVar RCV Id: RCV002152736
• dbSNP Id: rs199632597
• ExAC: 14:73685940 A / G
• gnomAD v2: 14-73685940-A-G
• gnomAD v3: 14-73219232-A-G
• gnomAD v4: 14-73219232-A-G
• MyVariant Identifiers: chr14:g.73685940A>G (hg19) ; chr14:g.73219232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73219232A>G , CM000676.2:g.73219232A>G	GRCh38
NC_000014.8:g.73685940A>G , CM000676.1:g.73685940A>G	GRCh37
NC_000014.7:g.72755693A>G	NCBI36
NG_007386.2:g.87762A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553599.6:c.1335A>G	ENSP00000452477.2:p.Thr445=
ENST00000554131.6:c.1347A>G	ENSP00000451915.2:p.Thr449=
ENST00000554995.2:n.2097A>G
ENST00000555386.6:c.*302A>G	ENSP00000450845.1:n.*302A>G
ENST00000556066.2:n.1773A>G
ENST00000556951.6:c.1335A>G	ENSP00000450551.2:p.Thr445=
ENST00000557293.6:c.1227A>G	ENSP00000451880.2:p.Thr409=
ENST00000559361.6:c.*1291A>G	ENSP00000454156.1:n.*1291A>G
ENST00000697912.1:c.*535A>G	ENSP00000513477.1:n.*535A>G
ENST00000697913.1:n.6897A>G
ENST00000697915.1:n.704A>G
ENST00000700265.1:c.1335A>G	ENSP00000514901.1:p.Thr445=
ENST00000700266.1:c.*1559A>G	ENSP00000514902.1:n.*1559A>G
ENST00000700267.1:c.1347A>G	ENSP00000514903.1:p.Thr449=
ENST00000700268.1:c.1347A>G	ENSP00000514904.1:p.Thr449=
ENST00000700269.1:c.1347A>G	ENSP00000514905.1:p.Thr449=
ENST00000700271.1:c.1161A>G	ENSP00000514906.1:p.Thr387=
ENST00000700272.1:c.*1291A>G	ENSP00000514907.1:n.*1291A>G
ENST00000700273.1:c.1335A>G	ENSP00000514908.1:p.Thr445=
ENST00000700302.1:c.*163A>G	ENSP00000514929.1:n.*163A>G
ENST00000700303.1:c.*1009A>G	ENSP00000514930.1:n.*1009A>G
ENST00000700304.1:c.*1291A>G	ENSP00000514931.1:n.*1291A>G
ENST00000700305.1:c.*905A>G	ENSP00000514932.1:n.*905A>G
ENST00000700306.1:c.1347A>G	ENSP00000514933.1:p.Thr449=
ENST00000700307.1:c.1248A>G	ENSP00000514934.1:p.Thr416=
ENST00000700308.1:c.*1291A>G	ENSP00000514935.1:n.*1291A>G
ENST00000700309.1:c.*1436A>G	ENSP00000514936.1:n.*1436A>G
ENST00000700310.1:c.*302A>G	ENSP00000514937.1:n.*302A>G
ENST00000700311.1:c.*163A>G	ENSP00000514938.1:n.*163A>G
ENST00000700312.1:c.1098A>G	ENSP00000514939.1:p.Thr366=
ENST00000700313.1:c.1335A>G	ENSP00000514940.1:p.Thr445=
ENST00000700314.1:c.*1286A>G	ENSP00000514941.1:n.*1286A>G
ENST00000700315.1:c.*905A>G	ENSP00000514942.1:n.*905A>G
ENST00000700316.1:c.*1127A>G	ENSP00000514943.1:n.*1127A>G
ENST00000700317.1:c.1347A>G	ENSP00000514944.1:p.Thr449=
ENST00000700318.1:c.*1009A>G	ENSP00000514945.1:n.*1009A>G
ENST00000700319.1:c.*787A>G	ENSP00000514946.1:n.*787A>G
ENST00000700320.1:c.1374A>G	ENSP00000514947.1:p.Thr458=
ENST00000700321.1:c.1347A>G	ENSP00000514948.1:p.Thr449=
ENST00000700322.1:c.1335A>G	ENSP00000514949.1:p.Thr445=
ENST00000700323.1:c.1347A>G	ENSP00000514950.1:p.Thr449=
ENST00000700324.1:c.1335A>G	ENSP00000514951.1:p.Thr445=
ENST00000700375.1:c.1347A>G	ENSP00000514966.1:p.Thr449=
ENST00000700377.1:c.*815A>G	ENSP00000514967.1:n.*815A>G
ENST00000700378.1:c.1347A>G	ENSP00000514968.1:p.Thr449=
ENST00000700379.1:n.1745A>G
ENST00000700389.1:c.1335A>G	ENSP00000514970.1:p.Thr445=
ENST00000700390.1:n.3058A>G
ENST00000700391.1:n.558A>G
ENST00000700404.1:n.2346A>G
ENST00000700436.1:c.*302A>G	ENSP00000514987.1:n.*302A>G
ENST00000700437.1:c.1098A>G	ENSP00000514988.1:p.Thr366=
ENST00000700468.1:c.1236A>G	ENSP00000515001.1:p.Thr412=
ENST00000700469.1:c.1335A>G	ENSP00000515002.1:p.Thr445=
ENST00000324501.10:c.1347A>G MANE Select	ENSP00000326366.5:p.Thr449=
ENST00000324501.9:c.1347A>G	ENSP00000326366.5:p.Thr449=
ENST00000357710.8:c.1335A>G	ENSP00000350342.4:p.Thr445=
ENST00000394164.5:c.1335A>G	ENSP00000377719.1:p.Thr445=
ENST00000406768.1:c.1071A>G	ENSP00000385948.1:p.Thr357=
ENST00000555386.5:c.1427A>G	ENSP00000450845.1:n.1427A>G
ENST00000555867.1:n.712A>G
ENST00000557511.5:c.1173A>G	ENSP00000451429.1:p.Thr391=
NM_000021.3:c.1347A>G	NP_000012.1:p.Thr449=
NM_007318.2:c.1335A>G	NP_015557.2:p.Thr445=
XM_005267864.1:c.1347A>G	XP_005267921.1:p.Thr449=
XM_005267866.1:c.1335A>G	XP_005267923.1:p.Thr445=
XM_011536971.1:c.1347A>G	XP_011535273.1:p.Thr449=
XM_011536972.1:c.1347A>G	XP_011535274.1:p.Thr449=
XM_011536973.1:c.1335A>G	XP_011535275.1:p.Thr445=
XM_011536974.1:c.1335A>G	XP_011535276.1:p.Thr445=
XM_005267864.3:c.1347A>G	XP_005267921.1:p.Thr449=
XM_005267866.2:c.1335A>G	XP_005267923.1:p.Thr445=
XM_011536972.2:c.1347A>G	XP_011535274.1:p.Thr449=
XM_011536973.2:c.1335A>G	XP_011535275.1:p.Thr445=
XM_011536974.2:c.1335A>G	XP_011535276.1:p.Thr445=
NM_000021.4:c.1347A>G MANE Select	NP_000012.1:p.Thr449=
NM_007318.3:c.1335A>G	NP_015557.2:p.Thr445=