Canonical Allele Identifier: CA397085211
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2434768
ClinVar RCV Id: RCV003131937
dbSNP Id: rs1238175184
gnomAD v2: 16-88786490-C-T
gnomAD v3: 16-88720082-C-T
gnomAD v4: 16-88720082-C-T
MyVariant Identifiers: chr16:g.88786490C>T (hg19) chr16:g.88720082C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720082C>T , CM000678.2:g.88720082C>T GRCh38
NC_000016.9:g.88786490C>T , CM000678.1:g.88786490C>T GRCh37
NC_000016.8:g.87313991C>T NCBI36
NG_042229.1:g.70139G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6151G>A MANE Select ENSP00000301015.9:p.Ala2051Thr
ENST00000466823.3:c.177G>A
ENST00000301015.13:c.6151G>A ENSP00000301015.9:p.Ala2051Thr
ENST00000466823.2:c.177G>A
ENST00000495568.7:n.392G>A
ENST00000497793.2:n.306G>A
NM_001142864.2:c.6151G>A NP_001136336.2:p.Ala2051Thr
NM_001142864.3:c.6151G>A NP_001136336.2:p.Ala2051Thr
NM_001142864.4:c.6151G>A MANE Select NP_001136336.2:p.Ala2051Thr
Search 100 bp 5'
Search 100 bp 3'