Canonical Allele Identifier: CA8231563
Gene: PIEZO1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88717172C>T
GRCh37 chr16:g.88783580C>T
Revel Score:
ENST00000451779 0.477
ENST00000301015 (MANE Select) 0.238
ENST00000327397 0.238
gnomAD v2:
16:88783580 C / T
gnomAD v3:
16:88717172 C / T
gnomAD v4:
chr16-88717172-C-T
Joint Max Group AF 0.000003 (NFE)
Exomes Max Group AF 0.0000027 (NFE)
ClinVar RCV:
RCV003302359
ClinVar Variation:
2569366
dbSNP:
370296725
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88717172C>T , CM000678.2:g.88717172C>T GRCh38
NC_000016.9:g.88783580C>T , CM000678.1:g.88783580C>T GRCh37
NC_000016.8:g.87311081C>T NCBI36
NG_042229.1:g.73049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6511G>A MANE Select ENSP00000301015.9:p.Val2171Ile
ENST00000484567.6:n.1570G>A
ENST00000301015.13:c.6511G>A ENSP00000301015.9:p.Val2171Ile
ENST00000327397.8:c.115G>A ENSP00000333704.7:p.Val39Ile
ENST00000419505.5:c.356G>A ENSP00000406358.1:n.356G>A
ENST00000484567.5:n.1147G>A
ENST00000495568.7:n.752G>A
NM_001142864.2:c.6511G>A NP_001136336.2:p.Val2171Ile
NM_001142864.3:c.6511G>A NP_001136336.2:p.Val2171Ile
NM_001142864.4:c.6511G>A MANE Select NP_001136336.2:p.Val2171Ile
Search 100 bp 5'
Search 100 bp 3'