Canonical Allele Identifier: CA8231659
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 738965
ClinVar RCV Id: RCV000914904
dbSNP Id: rs564995953
ExAC: 16:88786218 G / C
gnomAD v2: 16-88786218-G-C
gnomAD v3: 16-88719810-G-C
gnomAD v4: 16-88719810-G-C
MyVariant Identifiers: chr16:g.88786218G>C (hg19) chr16:g.88719810G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719810G>C , CM000678.2:g.88719810G>C GRCh38
NC_000016.9:g.88786218G>C , CM000678.1:g.88786218G>C GRCh37
NC_000016.8:g.87313719G>C NCBI36
NG_042229.1:g.70411C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6315C>G MANE Select ENSP00000301015.9:p.Leu2105=
ENST00000466823.3:c.341C>G
ENST00000301015.13:c.6315C>G ENSP00000301015.9:p.Leu2105=
ENST00000419505.5:c.81C>G ENSP00000406358.1:p.Leu27=
ENST00000466823.2:c.341C>G
ENST00000495568.7:n.556C>G
ENST00000497793.2:n.470C>G
NM_001142864.2:c.6315C>G NP_001136336.2:p.Leu2105=
NM_001142864.3:c.6315C>G NP_001136336.2:p.Leu2105=
NM_001142864.4:c.6315C>G MANE Select NP_001136336.2:p.Leu2105=
Search 100 bp 5'
Search 100 bp 3'