Canonical Allele Identifier: CA286409281
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 994160
ClinVar RCV Id: RCV001813100
dbSNP Id: rs948359372
gnomAD v2: 16-88786078-C-T
gnomAD v3: 16-88719670-C-T
gnomAD v4: 16-88719670-C-T
MyVariant Identifiers: chr16:g.88786078C>T (hg19) chr16:g.88719670C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719670C>T , CM000678.2:g.88719670C>T GRCh38
NC_000016.9:g.88786078C>T , CM000678.1:g.88786078C>T GRCh37
NC_000016.8:g.87313579C>T NCBI36
NG_042229.1:g.70551G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6375G>A MANE Select ENSP00000301015.9:p.Val2125=
ENST00000466823.3:c.401G>A
ENST00000301015.13:c.6375G>A ENSP00000301015.9:p.Val2125=
ENST00000419505.5:c.141G>A ENSP00000406358.1:p.Val47=
ENST00000466823.2:c.401G>A
ENST00000495568.7:n.616G>A
ENST00000497793.2:n.530G>A
NM_001142864.2:c.6375G>A NP_001136336.2:p.Val2125=
NM_001142864.3:c.6375G>A NP_001136336.2:p.Val2125=
NM_001142864.4:c.6375G>A MANE Select NP_001136336.2:p.Val2125=
Search 100 bp 5'
Search 100 bp 3'