Canonical Allele Identifier: CA211290
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55811
ClinVar RCV Id: RCV000049236 RCV001781379
dbSNP Id: rs587776991
ExAC: 16:88786073 G / A
gnomAD v2: 16-88786073-G-A
gnomAD v3: 16-88719665-G-A
gnomAD v4: 16-88719665-G-A
MyVariant Identifiers: chr16:g.88786073G>A (hg19) chr16:g.88719665G>A (hg38)
PubMed: PMID:16898969 PMID:23479567 PMID:23695678
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719665G>A , CM000678.2:g.88719665G>A GRCh38
NC_000016.9:g.88786073G>A , CM000678.1:g.88786073G>A GRCh37
NC_000016.8:g.87313574G>A NCBI36
NG_042229.1:g.70556C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6380C>T MANE Select ENSP00000301015.9:p.Thr2127Met
ENST00000466823.3:c.406C>T
ENST00000301015.13:c.6380C>T ENSP00000301015.9:p.Thr2127Met
ENST00000419505.5:c.146C>T ENSP00000406358.1:p.Thr49Met
ENST00000466823.2:c.406C>T
ENST00000495568.7:n.621C>T
ENST00000497793.2:n.535C>T
NM_001142864.2:c.6380C>T NP_001136336.2:p.Thr2127Met
NM_001142864.3:c.6380C>T NP_001136336.2:p.Thr2127Met
NM_001142864.4:c.6380C>T MANE Select NP_001136336.2:p.Thr2127Met
Search 100 bp 5'
Search 100 bp 3'