Canonical Allele Identifier: CA397112498
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2869210
ClinVar RCV Id: RCV003705398
MyVariant Identifiers: chr16:g.88800145T>G (hg19) chr16:g.88733737T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733737T>G , CM000678.2:g.88733737T>G GRCh38
NC_000016.9:g.88800145T>G , CM000678.1:g.88800145T>G GRCh37
NC_000016.8:g.87327646T>G NCBI36
NG_042229.1:g.56484A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2338A>C (PIEZO1) MANE Select ENSP00000301015.9:p.Lys780Gln
ENST00000301015.13:c.2338A>C (PIEZO1) ENSP00000301015.9:p.Lys780Gln
NM_001142864.2:c.2338A>C (PIEZO1) NP_001136336.2:p.Lys780Gln
NM_001142864.3:c.2338A>C (PIEZO1) NP_001136336.2:p.Lys780Gln
NR_103774.1:n.269+2289T>G (HSALR1)
NM_001142864.4:c.2338A>C (PIEZO1) MANE Select NP_001136336.2:p.Lys780Gln
Search 100 bp 5'
Search 100 bp 3'