Canonical Allele Identifier: CA397083472
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428603
ClinVar RCV Id: RCV003120204
dbSNP Id: rs1912291254
gnomAD v4: 16-88719692-A-T
MyVariant Identifiers: chr16:g.88786100A>T (hg19) chr16:g.88719692A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719692A>T , CM000678.2:g.88719692A>T GRCh38
NC_000016.9:g.88786100A>T , CM000678.1:g.88786100A>T GRCh37
NC_000016.8:g.87313601A>T NCBI36
NG_042229.1:g.70529T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6353T>A MANE Select ENSP00000301015.9:p.Leu2118Gln
ENST00000466823.3:c.379T>A
ENST00000301015.13:c.6353T>A ENSP00000301015.9:p.Leu2118Gln
ENST00000419505.5:c.119T>A ENSP00000406358.1:p.Leu40Gln
ENST00000466823.2:c.379T>A
ENST00000495568.7:n.594T>A
ENST00000497793.2:n.508T>A
NM_001142864.2:c.6353T>A NP_001136336.2:p.Leu2118Gln
NM_001142864.3:c.6353T>A NP_001136336.2:p.Leu2118Gln
NM_001142864.4:c.6353T>A MANE Select NP_001136336.2:p.Leu2118Gln
Search 100 bp 5'
Search 100 bp 3'