Canonical Allele Identifier: CA397085247
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1159216158
gnomAD v3: 16-88720087-A-T
gnomAD v4: 16-88720087-A-T
MyVariant Identifiers: chr16:g.88786495A>T (hg19) chr16:g.88720087A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720087A>T , CM000678.2:g.88720087A>T GRCh38
NC_000016.9:g.88786495A>T , CM000678.1:g.88786495A>T GRCh37
NC_000016.8:g.87313996A>T NCBI36
NG_042229.1:g.70134T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6146T>A MANE Select ENSP00000301015.9:p.Leu2049Gln
ENST00000466823.3:c.172T>A
ENST00000301015.13:c.6146T>A ENSP00000301015.9:p.Leu2049Gln
ENST00000466823.2:c.172T>A
ENST00000495568.7:n.387T>A
ENST00000497793.2:n.301T>A
NM_001142864.2:c.6146T>A NP_001136336.2:p.Leu2049Gln
NM_001142864.3:c.6146T>A NP_001136336.2:p.Leu2049Gln
NM_001142864.4:c.6146T>A MANE Select NP_001136336.2:p.Leu2049Gln
Search 100 bp 5'
Search 100 bp 3'