Canonical Allele Identifier: CA225141
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18126
ClinVar RCV Id: RCV000019754 RCV000084387
dbSNP Id: rs63751235
MyVariant Identifiers: chr14:g.73664825C>G (hg19) chr14:g.73198117C>G (hg38)
PubMed: PMID:2025423 PMID:7596406 PMID:8986743 PMID:9051814 PMID:10327206 PMID:10525535 PMID:10764737 PMID:10811883 PMID:11070093 PMID:18587238 PMID:20484632 PMID:21919498 PMID:22475797 PMID:25239621 PMID:26462451 PMID:27810638 PMID:27930341
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73198117C>G , CM000676.2:g.73198117C>G GRCh38
NC_000014.8:g.73664825C>G , CM000676.1:g.73664825C>G GRCh37
NC_000014.7:g.72734578C>G NCBI36
NG_007386.2:g.66647C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553599.6:c.844C>G ENSP00000452477.2:p.Leu282Val
ENST00000554131.6:c.856C>G ENSP00000451915.2:p.Leu286Val
ENST00000554995.2:n.1606C>G
ENST00000555386.6:c.844C>G ENSP00000450845.1:p.Leu282Val
ENST00000556066.2:n.1282C>G
ENST00000556951.6:c.844C>G ENSP00000450551.2:p.Leu282Val
ENST00000557293.6:c.736C>G ENSP00000451880.2:p.Leu246Val
ENST00000559361.6:c.*800C>G ENSP00000454156.1:n.*800C>G
ENST00000697912.1:c.844C>G ENSP00000513477.1:p.Leu282Val
ENST00000697913.1:n.1110C>G
ENST00000700265.1:c.844C>G ENSP00000514901.1:p.Leu282Val
ENST00000700266.1:c.*1068C>G ENSP00000514902.1:n.*1068C>G
ENST00000700267.1:c.856C>G ENSP00000514903.1:p.Leu286Val
ENST00000700268.1:c.856C>G ENSP00000514904.1:p.Leu286Val
ENST00000700269.1:c.856C>G ENSP00000514905.1:p.Leu286Val
ENST00000700270.1:n.1112C>G
ENST00000700271.1:c.844C>G ENSP00000514906.1:p.Leu282Val
ENST00000700272.1:c.*800C>G ENSP00000514907.1:n.*800C>G
ENST00000700273.1:c.844C>G ENSP00000514908.1:p.Leu282Val
ENST00000700302.1:c.856C>G ENSP00000514929.1:p.Leu286Val
ENST00000700303.1:c.*518C>G ENSP00000514930.1:n.*518C>G
ENST00000700304.1:c.*800C>G ENSP00000514931.1:n.*800C>G
ENST00000700305.1:c.*414C>G ENSP00000514932.1:n.*414C>G
ENST00000700306.1:c.856C>G ENSP00000514933.1:p.Leu286Val
ENST00000700307.1:c.769+5253C>G ENSP00000514934.1:n.769+5253C>G
ENST00000700308.1:c.*800C>G ENSP00000514935.1:n.*800C>G
ENST00000700309.1:c.*945C>G ENSP00000514936.1:n.*945C>G
ENST00000700310.1:c.757+5253C>G ENSP00000514937.1:n.757+5253C>G
ENST00000700311.1:c.856C>G ENSP00000514938.1:p.Leu286Val
ENST00000700312.1:c.607C>G ENSP00000514939.1:p.Leu203Val
ENST00000700313.1:c.844C>G ENSP00000514940.1:p.Leu282Val
ENST00000700314.1:c.*795C>G ENSP00000514941.1:n.*795C>G
ENST00000700315.1:c.*414C>G ENSP00000514942.1:n.*414C>G
ENST00000700316.1:c.*636C>G ENSP00000514943.1:n.*636C>G
ENST00000700317.1:c.856C>G ENSP00000514944.1:p.Leu286Val
ENST00000700318.1:c.*518C>G ENSP00000514945.1:n.*518C>G
ENST00000700319.1:c.*296C>G ENSP00000514946.1:n.*296C>G
ENST00000700320.1:c.883C>G ENSP00000514947.1:p.Leu295Val
ENST00000700321.1:c.856C>G ENSP00000514948.1:p.Leu286Val
ENST00000700322.1:c.844C>G ENSP00000514949.1:p.Leu282Val
ENST00000700323.1:c.856C>G ENSP00000514950.1:p.Leu286Val
ENST00000700324.1:c.844C>G ENSP00000514951.1:p.Leu282Val
ENST00000700375.1:c.856C>G ENSP00000514966.1:p.Leu286Val
ENST00000700377.1:c.*324C>G ENSP00000514967.1:n.*324C>G
ENST00000700378.1:c.856C>G ENSP00000514968.1:p.Leu286Val
ENST00000700379.1:n.1254C>G
ENST00000700389.1:c.844C>G ENSP00000514970.1:p.Leu282Val
ENST00000700390.1:n.2567C>G
ENST00000700404.1:n.1855C>G
ENST00000700433.1:n.1107C>G
ENST00000700434.1:n.1109C>G
ENST00000700435.1:n.991C>G
ENST00000700436.1:c.856C>G ENSP00000514987.1:p.Leu286Val
ENST00000700437.1:c.607C>G ENSP00000514988.1:p.Leu203Val
ENST00000700467.1:n.1113C>G
ENST00000700468.1:c.757+5253C>G ENSP00000515001.1:n.757+5253C>G
ENST00000700469.1:c.844C>G ENSP00000515002.1:p.Leu282Val
ENST00000324501.10:c.856C>G MANE Select ENSP00000326366.5:p.Leu286Val
ENST00000324501.9:c.856C>G ENSP00000326366.5:p.Leu286Val
ENST00000357710.8:c.844C>G ENSP00000350342.4:p.Leu282Val
ENST00000394164.5:c.844C>G ENSP00000377719.1:p.Leu282Val
ENST00000406768.1:c.580C>G ENSP00000385948.1:p.Leu194Val
ENST00000553855.5:c.856C>G ENSP00000452242.1:p.Leu286Val
ENST00000554995.1:n.408C>G
ENST00000555386.5:c.844C>G ENSP00000450845.1:p.Leu282Val
ENST00000557511.5:c.856C>G ENSP00000451429.1:p.Leu286Val
NM_000021.3:c.856C>G NP_000012.1:p.Leu286Val
NM_007318.2:c.844C>G NP_015557.2:p.Leu282Val
XM_005267864.1:c.856C>G XP_005267921.1:p.Leu286Val
XM_005267866.1:c.844C>G XP_005267923.1:p.Leu282Val
XM_011536971.1:c.856C>G XP_011535273.1:p.Leu286Val
XM_011536972.1:c.856C>G XP_011535274.1:p.Leu286Val
XM_011536973.1:c.844C>G XP_011535275.1:p.Leu282Val
XM_011536974.1:c.844C>G XP_011535276.1:p.Leu282Val
XM_005267864.3:c.856C>G XP_005267921.1:p.Leu286Val
XM_005267866.2:c.844C>G XP_005267923.1:p.Leu282Val
XM_011536972.2:c.856C>G XP_011535274.1:p.Leu286Val
XM_011536973.2:c.844C>G XP_011535275.1:p.Leu282Val
XM_011536974.2:c.844C>G XP_011535276.1:p.Leu282Val
NM_000021.4:c.856C>G MANE Select NP_000012.1:p.Leu286Val
NM_007318.3:c.844C>G NP_015557.2:p.Leu282Val
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