Canonical Allele Identifier: CA8232712
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2368227
ClinVar RCV Id: RCV002997212 RCV003481431
dbSNP Id: rs575773932
ExAC: 16:88799040 C / G
gnomAD v2: 16-88799040-C-G
gnomAD v3: 16-88732632-C-G
gnomAD v4: 16-88732632-C-G
MyVariant Identifiers: chr16:g.88799040C>G (hg19) chr16:g.88732632C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732632C>G , CM000678.2:g.88732632C>G GRCh38
NC_000016.9:g.88799040C>G , CM000678.1:g.88799040C>G GRCh37
NC_000016.8:g.87326541C>G NCBI36
NG_042229.1:g.57589G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2765G>C (PIEZO1) MANE Select ENSP00000301015.9:p.Gly922Ala
ENST00000301015.13:c.2765G>C (PIEZO1) ENSP00000301015.9:p.Gly922Ala
ENST00000490756.1:n.349G>C (PIEZO1)
NM_001142864.2:c.2765G>C (PIEZO1) NP_001136336.2:p.Gly922Ala
NM_001142864.3:c.2765G>C (PIEZO1) NP_001136336.2:p.Gly922Ala
NR_103774.1:n.269+1184C>G (HSALR1)
NM_001142864.4:c.2765G>C (PIEZO1) MANE Select NP_001136336.2:p.Gly922Ala
Search 100 bp 5'
Search 100 bp 3'