Canonical Allele Identifier: CA286409299
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1908001
ClinVar RCV Id: RCV002581221
dbSNP Id: rs750951378
gnomAD v2: 16-88786192-C-T
gnomAD v3: 16-88719784-C-T
gnomAD v4: 16-88719784-C-T
MyVariant Identifiers: chr16:g.88786192C>T (hg19) chr16:g.88719784C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719784C>T , CM000678.2:g.88719784C>T GRCh38
NC_000016.9:g.88786192C>T , CM000678.1:g.88786192C>T GRCh37
NC_000016.8:g.87313693C>T NCBI36
NG_042229.1:g.70437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6323+18G>A MANE Select ENSP00000301015.9:n.6323+18G>A
ENST00000466823.3:c.349+18G>A
ENST00000301015.13:c.6323+18G>A ENSP00000301015.9:n.6323+18G>A
ENST00000419505.5:c.89+18G>A ENSP00000406358.1:n.89+18G>A
ENST00000466823.2:c.349+18G>A
ENST00000495568.7:n.564+18G>A
ENST00000497793.2:n.478+18G>A
NM_001142864.2:c.6323+18G>A NP_001136336.2:n.6323+18G>A
NM_001142864.3:c.6323+18G>A NP_001136336.2:n.6323+18G>A
NM_001142864.4:c.6323+18G>A MANE Select NP_001136336.2:n.6323+18G>A
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