Canonical Allele Identifier: CA397109489
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2844508
ClinVar RCV Id: RCV003716862
MyVariant Identifiers: chr16:g.88798778A>C (hg19) chr16:g.88732370A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732370A>C , CM000678.2:g.88732370A>C GRCh38
NC_000016.9:g.88798778A>C , CM000678.1:g.88798778A>C GRCh37
NC_000016.8:g.87326279A>C NCBI36
NG_042229.1:g.57851T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2956T>G (PIEZO1) MANE Select ENSP00000301015.9:p.Phe986Val
ENST00000301015.13:c.2956T>G (PIEZO1) ENSP00000301015.9:p.Phe986Val
NM_001142864.2:c.2956T>G (PIEZO1) NP_001136336.2:p.Phe986Val
NM_001142864.3:c.2956T>G (PIEZO1) NP_001136336.2:p.Phe986Val
NR_103774.1:n.269+922A>C (HSALR1)
NM_001142864.4:c.2956T>G (PIEZO1) MANE Select NP_001136336.2:p.Phe986Val
Search 100 bp 5'
Search 100 bp 3'