Canonical Allele Identifier: CA397084237
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2434710
ClinVar RCV Id: RCV003134836
dbSNP Id: rs1220269760
gnomAD v2: 16-88786254-G-T
gnomAD v4: 16-88719846-G-T
MyVariant Identifiers: chr16:g.88786254G>T (hg19) chr16:g.88719846G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719846G>T , CM000678.2:g.88719846G>T GRCh38
NC_000016.9:g.88786254G>T , CM000678.1:g.88786254G>T GRCh37
NC_000016.8:g.87313755G>T NCBI36
NG_042229.1:g.70375C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6279C>A MANE Select ENSP00000301015.9:p.Phe2093Leu
ENST00000466823.3:c.305C>A
ENST00000301015.13:c.6279C>A ENSP00000301015.9:p.Phe2093Leu
ENST00000419505.5:c.45C>A ENSP00000406358.1:p.Phe15Leu
ENST00000466823.2:c.305C>A
ENST00000495568.7:n.520C>A
ENST00000497793.2:n.434C>A
NM_001142864.2:c.6279C>A NP_001136336.2:p.Phe2093Leu
NM_001142864.3:c.6279C>A NP_001136336.2:p.Phe2093Leu
NM_001142864.4:c.6279C>A MANE Select NP_001136336.2:p.Phe2093Leu
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