Canonical Allele Identifier: CA397105047
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1365351666
gnomAD v3: 16-88727049-T-C
gnomAD v4: 16-88727049-T-C
MyVariant Identifiers: chr16:g.88793457T>C (hg19) chr16:g.88727049T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88727049T>C , CM000678.2:g.88727049T>C GRCh38
NC_000016.9:g.88793457T>C , CM000678.1:g.88793457T>C GRCh37
NC_000016.8:g.87320958T>C NCBI36
NG_042229.1:g.63172A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.3445A>G MANE Select ENSP00000301015.9:p.Ile1149Val
ENST00000301015.13:c.3445A>G ENSP00000301015.9:p.Ile1149Val
NM_001142864.2:c.3445A>G NP_001136336.2:p.Ile1149Val
NM_001142864.3:c.3445A>G NP_001136336.2:p.Ile1149Val
NM_001142864.4:c.3445A>G MANE Select NP_001136336.2:p.Ile1149Val
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