Canonical Allele Identifier: CA286420490
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2207326
ClinVar RCV Id: RCV002660003
dbSNP Id: rs929273324
gnomAD v2: 16-88798894-C-T
gnomAD v3: 16-88732486-C-T
gnomAD v4: 16-88732486-C-T
MyVariant Identifiers: chr16:g.88798894C>T (hg19) chr16:g.88732486C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732486C>T , CM000678.2:g.88732486C>T GRCh38
NC_000016.9:g.88798894C>T , CM000678.1:g.88798894C>T GRCh37
NC_000016.8:g.87326395C>T NCBI36
NG_042229.1:g.57735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2840G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Arg947Gln
ENST00000301015.13:c.2840G>A (PIEZO1) ENSP00000301015.9:p.Arg947Gln
ENST00000490756.1:n.424G>A (PIEZO1)
NM_001142864.2:c.2840G>A (PIEZO1) NP_001136336.2:p.Arg947Gln
NM_001142864.3:c.2840G>A (PIEZO1) NP_001136336.2:p.Arg947Gln
NR_103774.1:n.269+1038C>T (HSALR1)
NM_001142864.4:c.2840G>A (PIEZO1) MANE Select NP_001136336.2:p.Arg947Gln
Search 100 bp 5'
Search 100 bp 3'