Canonical Allele Identifier: CA397084242
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786255A>C (hg19) chr16:g.88719847A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719847A>C , CM000678.2:g.88719847A>C GRCh38
NC_000016.9:g.88786255A>C , CM000678.1:g.88786255A>C GRCh37
NC_000016.8:g.87313756A>C NCBI36
NG_042229.1:g.70374T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6278T>G MANE Select ENSP00000301015.9:p.Phe2093Cys
ENST00000466823.3:c.304T>G
ENST00000301015.13:c.6278T>G ENSP00000301015.9:p.Phe2093Cys
ENST00000419505.5:c.44T>G ENSP00000406358.1:p.Phe15Cys
ENST00000466823.2:c.304T>G
ENST00000495568.7:n.519T>G
ENST00000497793.2:n.433T>G
NM_001142864.2:c.6278T>G NP_001136336.2:p.Phe2093Cys
NM_001142864.3:c.6278T>G NP_001136336.2:p.Phe2093Cys
NM_001142864.4:c.6278T>G MANE Select NP_001136336.2:p.Phe2093Cys
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