Canonical Allele Identifier: CA397084092

Gene: PIEZO1

Linked Data

• MyVariant Identifiers: chr16:g.88786237T>A (hg19) ; chr16:g.88719829T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719829T>A , CM000678.2:g.88719829T>A	GRCh38
NC_000016.9:g.88786237T>A , CM000678.1:g.88786237T>A	GRCh37
NC_000016.8:g.87313738T>A	NCBI36
NG_042229.1:g.70392A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6296A>T MANE Select	ENSP00000301015.9:p.Asn2099Ile
ENST00000466823.3:c.322A>T
ENST00000301015.13:c.6296A>T	ENSP00000301015.9:p.Asn2099Ile
ENST00000419505.5:c.62A>T	ENSP00000406358.1:p.Asn21Ile
ENST00000466823.2:c.322A>T
ENST00000495568.7:n.537A>T
ENST00000497793.2:n.451A>T
NM_001142864.2:c.6296A>T	NP_001136336.2:p.Asn2099Ile
NM_001142864.3:c.6296A>T	NP_001136336.2:p.Asn2099Ile
NM_001142864.4:c.6296A>T MANE Select	NP_001136336.2:p.Asn2099Ile