Canonical Allele Identifier: CA286409305
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1050965122
gnomAD v2: 16-88786250-T-C
gnomAD v3: 16-88719842-T-C
gnomAD v4: 16-88719842-T-C
MyVariant Identifiers: chr16:g.88786250T>C (hg19) chr16:g.88719842T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719842T>C , CM000678.2:g.88719842T>C GRCh38
NC_000016.9:g.88786250T>C , CM000678.1:g.88786250T>C GRCh37
NC_000016.8:g.87313751T>C NCBI36
NG_042229.1:g.70379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6283A>G MANE Select ENSP00000301015.9:p.Thr2095Ala
ENST00000466823.3:c.309A>G
ENST00000301015.13:c.6283A>G ENSP00000301015.9:p.Thr2095Ala
ENST00000419505.5:c.49A>G ENSP00000406358.1:p.Thr17Ala
ENST00000466823.2:c.309A>G
ENST00000495568.7:n.524A>G
ENST00000497793.2:n.438A>G
NM_001142864.2:c.6283A>G NP_001136336.2:p.Thr2095Ala
NM_001142864.3:c.6283A>G NP_001136336.2:p.Thr2095Ala
NM_001142864.4:c.6283A>G MANE Select NP_001136336.2:p.Thr2095Ala
Search 100 bp 5'
Search 100 bp 3'