Canonical Allele Identifier: CA8232787
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2711655
ClinVar RCV Id: RCV003545412
dbSNP Id: rs375353698
ExAC: 16:88800080 G / A
gnomAD v2: 16-88800080-G-A
gnomAD v3: 16-88733672-G-A
gnomAD v4: 16-88733672-G-A
MyVariant Identifiers: chr16:g.88800080G>A (hg19) chr16:g.88733672G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733672G>A , CM000678.2:g.88733672G>A GRCh38
NC_000016.9:g.88800080G>A , CM000678.1:g.88800080G>A GRCh37
NC_000016.8:g.87327581G>A NCBI36
NG_042229.1:g.56549C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2403C>T (PIEZO1) MANE Select ENSP00000301015.9:p.Arg801=
ENST00000301015.13:c.2403C>T (PIEZO1) ENSP00000301015.9:p.Arg801=
NM_001142864.2:c.2403C>T (PIEZO1) NP_001136336.2:p.Arg801=
NM_001142864.3:c.2403C>T (PIEZO1) NP_001136336.2:p.Arg801=
NR_103774.1:n.269+2224G>A (HSALR1)
NM_001142864.4:c.2403C>T (PIEZO1) MANE Select NP_001136336.2:p.Arg801=
Search 100 bp 5'
Search 100 bp 3'