Canonical Allele Identifier: CA497366616
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1373627858
gnomAD v2: 16-88798914-T-C
gnomAD v3: 16-88732506-T-C
gnomAD v4: 16-88732506-T-C
MyVariant Identifiers: chr16:g.88798914T>C (hg19) chr16:g.88732506T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732506T>C , CM000678.2:g.88732506T>C GRCh38
NC_000016.9:g.88798914T>C , CM000678.1:g.88798914T>C GRCh37
NC_000016.8:g.87326415T>C NCBI36
NG_042229.1:g.57715A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2820A>G (PIEZO1) MANE Select ENSP00000301015.9:p.Val940=
ENST00000301015.13:c.2820A>G (PIEZO1) ENSP00000301015.9:p.Val940=
ENST00000490756.1:n.404A>G (PIEZO1)
NM_001142864.2:c.2820A>G (PIEZO1) NP_001136336.2:p.Val940=
NM_001142864.3:c.2820A>G (PIEZO1) NP_001136336.2:p.Val940=
NR_103774.1:n.269+1058T>C (HSALR1)
NM_001142864.4:c.2820A>G (PIEZO1) MANE Select NP_001136336.2:p.Val940=
Search 100 bp 5'
Search 100 bp 3'