Canonical Allele Identifier: CA397084088
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786235G>C (hg19) chr16:g.88719827G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719827G>C , CM000678.2:g.88719827G>C GRCh38
NC_000016.9:g.88786235G>C , CM000678.1:g.88786235G>C GRCh37
NC_000016.8:g.87313736G>C NCBI36
NG_042229.1:g.70394C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6298C>G MANE Select ENSP00000301015.9:p.His2100Asp
ENST00000466823.3:c.324C>G
ENST00000301015.13:c.6298C>G ENSP00000301015.9:p.His2100Asp
ENST00000419505.5:c.64C>G ENSP00000406358.1:p.His22Asp
ENST00000466823.2:c.324C>G
ENST00000495568.7:n.539C>G
ENST00000497793.2:n.453C>G
NM_001142864.2:c.6298C>G NP_001136336.2:p.His2100Asp
NM_001142864.3:c.6298C>G NP_001136336.2:p.His2100Asp
NM_001142864.4:c.6298C>G MANE Select NP_001136336.2:p.His2100Asp
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