Canonical Allele Identifier: CA286409306
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 983306
ClinVar RCV Id: RCV001263246
dbSNP Id: rs1027478327
gnomAD v2: 16-88786253-G-A
gnomAD v3: 16-88719845-G-A
gnomAD v4: 16-88719845-G-A
MyVariant Identifiers: chr16:g.88786253G>A (hg19) chr16:g.88719845G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719845G>A , CM000678.2:g.88719845G>A GRCh38
NC_000016.9:g.88786253G>A , CM000678.1:g.88786253G>A GRCh37
NC_000016.8:g.87313754G>A NCBI36
NG_042229.1:g.70376C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6280C>T MANE Select ENSP00000301015.9:p.Leu2094Phe
ENST00000466823.3:c.306C>T
ENST00000301015.13:c.6280C>T ENSP00000301015.9:p.Leu2094Phe
ENST00000419505.5:c.46C>T ENSP00000406358.1:p.Leu16Phe
ENST00000466823.2:c.306C>T
ENST00000495568.7:n.521C>T
ENST00000497793.2:n.435C>T
NM_001142864.2:c.6280C>T NP_001136336.2:p.Leu2094Phe
NM_001142864.3:c.6280C>T NP_001136336.2:p.Leu2094Phe
NM_001142864.4:c.6280C>T MANE Select NP_001136336.2:p.Leu2094Phe
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