Canonical Allele Identifier: CA397084224

Gene: PIEZO1

Linked Data

• MyVariant Identifiers: chr16:g.88786252A>T (hg19) ; chr16:g.88719844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719844A>T , CM000678.2:g.88719844A>T	GRCh38
NC_000016.9:g.88786252A>T , CM000678.1:g.88786252A>T	GRCh37
NC_000016.8:g.87313753A>T	NCBI36
NG_042229.1:g.70377T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6281T>A MANE Select	ENSP00000301015.9:p.Leu2094His
ENST00000466823.3:c.307T>A
ENST00000301015.13:c.6281T>A	ENSP00000301015.9:p.Leu2094His
ENST00000419505.5:c.47T>A	ENSP00000406358.1:p.Leu16His
ENST00000466823.2:c.307T>A
ENST00000495568.7:n.522T>A
ENST00000497793.2:n.436T>A
NM_001142864.2:c.6281T>A	NP_001136336.2:p.Leu2094His
NM_001142864.3:c.6281T>A	NP_001136336.2:p.Leu2094His
NM_001142864.4:c.6281T>A MANE Select	NP_001136336.2:p.Leu2094His