Canonical Allele Identifier: CA8232721
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428554
ClinVar RCV Id: RCV003120155
dbSNP Id: rs755398062
ExAC: 16:88799083 G / A
gnomAD v2: 16-88799083-G-A
gnomAD v3: 16-88732675-G-A
gnomAD v4: 16-88732675-G-A
MyVariant Identifiers: chr16:g.88799083G>A (hg19) chr16:g.88732675G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732675G>A , CM000678.2:g.88732675G>A GRCh38
NC_000016.9:g.88799083G>A , CM000678.1:g.88799083G>A GRCh37
NC_000016.8:g.87326584G>A NCBI36
NG_042229.1:g.57546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2722C>T (PIEZO1) MANE Select ENSP00000301015.9:p.Arg908Trp
ENST00000301015.13:c.2722C>T (PIEZO1) ENSP00000301015.9:p.Arg908Trp
ENST00000490756.1:n.306C>T (PIEZO1)
NM_001142864.2:c.2722C>T (PIEZO1) NP_001136336.2:p.Arg908Trp
NM_001142864.3:c.2722C>T (PIEZO1) NP_001136336.2:p.Arg908Trp
NR_103774.1:n.269+1227G>A (HSALR1)
NM_001142864.4:c.2722C>T (PIEZO1) MANE Select NP_001136336.2:p.Arg908Trp
Search 100 bp 5'
Search 100 bp 3'