Canonical Allele Identifier: CA8232670
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2434746
ClinVar RCV Id: RCV003131926
dbSNP Id: rs529542524
ExAC: 16:88798793 C / T
gnomAD v2: 16-88798793-C-T
gnomAD v3: 16-88732385-C-T
gnomAD v4: 16-88732385-C-T
MyVariant Identifiers: chr16:g.88798793C>T (hg19) chr16:g.88732385C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732385C>T , CM000678.2:g.88732385C>T GRCh38
NC_000016.9:g.88798793C>T , CM000678.1:g.88798793C>T GRCh37
NC_000016.8:g.87326294C>T NCBI36
NG_042229.1:g.57836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2941G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Gly981Ser
ENST00000301015.13:c.2941G>A (PIEZO1) ENSP00000301015.9:p.Gly981Ser
NM_001142864.2:c.2941G>A (PIEZO1) NP_001136336.2:p.Gly981Ser
NM_001142864.3:c.2941G>A (PIEZO1) NP_001136336.2:p.Gly981Ser
NR_103774.1:n.269+937C>T (HSALR1)
NM_001142864.4:c.2941G>A (PIEZO1) MANE Select NP_001136336.2:p.Gly981Ser
Search 100 bp 5'
Search 100 bp 3'