Canonical Allele Identifier: CA397112794
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1043472111
gnomAD v3: 16-88733951-C-T
gnomAD v4: 16-88733951-C-T
MyVariant Identifiers: chr16:g.88800359C>T (hg19) chr16:g.88733951C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733951C>T , CM000678.2:g.88733951C>T GRCh38
NC_000016.9:g.88800359C>T , CM000678.1:g.88800359C>T GRCh37
NC_000016.8:g.87327860C>T NCBI36
NG_042229.1:g.56270G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2284G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Gly762Arg
ENST00000301015.13:c.2284G>A (PIEZO1) ENSP00000301015.9:p.Gly762Arg
NM_001142864.2:c.2284G>A (PIEZO1) NP_001136336.2:p.Gly762Arg
NM_001142864.3:c.2284G>A (PIEZO1) NP_001136336.2:p.Gly762Arg
NR_103774.1:n.269+2503C>T (HSALR1)
NM_001142864.4:c.2284G>A (PIEZO1) MANE Select NP_001136336.2:p.Gly762Arg
Search 100 bp 5'
Search 100 bp 3'