Canonical Allele Identifier: CA8232690
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2383808
ClinVar RCV Id: RCV002708378
dbSNP Id: rs760690839
ExAC: 16:88798895 G / A
gnomAD v2: 16-88798895-G-A
gnomAD v3: 16-88732487-G-A
gnomAD v4: 16-88732487-G-A
MyVariant Identifiers: chr16:g.88798895G>A (hg19) chr16:g.88732487G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732487G>A , CM000678.2:g.88732487G>A GRCh38
NC_000016.9:g.88798895G>A , CM000678.1:g.88798895G>A GRCh37
NC_000016.8:g.87326396G>A NCBI36
NG_042229.1:g.57734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2839C>T (PIEZO1) MANE Select ENSP00000301015.9:p.Arg947Trp
ENST00000301015.13:c.2839C>T (PIEZO1) ENSP00000301015.9:p.Arg947Trp
ENST00000490756.1:n.423C>T (PIEZO1)
NM_001142864.2:c.2839C>T (PIEZO1) NP_001136336.2:p.Arg947Trp
NM_001142864.3:c.2839C>T (PIEZO1) NP_001136336.2:p.Arg947Trp
NR_103774.1:n.269+1039G>A (HSALR1)
NM_001142864.4:c.2839C>T (PIEZO1) MANE Select NP_001136336.2:p.Arg947Trp
Search 100 bp 5'
Search 100 bp 3'