Canonical Allele Identifier: CA8232678
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 732057
ClinVar RCV Id: RCV000907126 RCV003910848
dbSNP Id: rs533382499
ExAC: 16:88798845 G / C
gnomAD v2: 16-88798845-G-C
gnomAD v3: 16-88732437-G-C
gnomAD v4: 16-88732437-G-C
MyVariant Identifiers: chr16:g.88798845G>C (hg19) chr16:g.88732437G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732437G>C , CM000678.2:g.88732437G>C GRCh38
NC_000016.9:g.88798845G>C , CM000678.1:g.88798845G>C GRCh37
NC_000016.8:g.87326346G>C NCBI36
NG_042229.1:g.57784C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2889C>G (PIEZO1) MANE Select ENSP00000301015.9:p.Ala963=
ENST00000301015.13:c.2889C>G (PIEZO1) ENSP00000301015.9:p.Ala963=
NM_001142864.2:c.2889C>G (PIEZO1) NP_001136336.2:p.Ala963=
NM_001142864.3:c.2889C>G (PIEZO1) NP_001136336.2:p.Ala963=
NR_103774.1:n.269+989G>C (HSALR1)
NM_001142864.4:c.2889C>G (PIEZO1) MANE Select NP_001136336.2:p.Ala963=
Search 100 bp 5'
Search 100 bp 3'