Canonical Allele Identifier: CA8231664
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 811549
ClinVar RCV Id: RCV001673000
dbSNP Id: rs2290900
ExAC: 16:88786245 C / T
gnomAD v2: 16-88786245-C-T
gnomAD v3: 16-88719837-C-T
gnomAD v4: 16-88719837-C-T
MyVariant Identifiers: chr16:g.88786245C>T (hg19) chr16:g.88719837C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719837C>T , CM000678.2:g.88719837C>T GRCh38
NC_000016.9:g.88786245C>T , CM000678.1:g.88786245C>T GRCh37
NC_000016.8:g.87313746C>T NCBI36
NG_042229.1:g.70384G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6288G>A MANE Select ENSP00000301015.9:p.Lys2096=
ENST00000466823.3:c.314G>A
ENST00000301015.13:c.6288G>A ENSP00000301015.9:p.Lys2096=
ENST00000419505.5:c.54G>A ENSP00000406358.1:p.Lys18=
ENST00000466823.2:c.314G>A
ENST00000495568.7:n.529G>A
ENST00000497793.2:n.443G>A
NM_001142864.2:c.6288G>A NP_001136336.2:p.Lys2096=
NM_001142864.3:c.6288G>A NP_001136336.2:p.Lys2096=
NM_001142864.4:c.6288G>A MANE Select NP_001136336.2:p.Lys2096=
Search 100 bp 5'
Search 100 bp 3'