Canonical Allele Identifier: CA397085198

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88720081-G-A
• MyVariant Identifiers: chr16:g.88786489G>A (hg19) ; chr16:g.88720081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88720081G>A , CM000678.2:g.88720081G>A	GRCh38
NC_000016.9:g.88786489G>A , CM000678.1:g.88786489G>A	GRCh37
NC_000016.8:g.87313990G>A	NCBI36
NG_042229.1:g.70140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6152C>T MANE Select	ENSP00000301015.9:p.Ala2051Val
ENST00000466823.3:c.178C>T
ENST00000301015.13:c.6152C>T	ENSP00000301015.9:p.Ala2051Val
ENST00000466823.2:c.178C>T
ENST00000495568.7:n.393C>T
ENST00000497793.2:n.307C>T
NM_001142864.2:c.6152C>T	NP_001136336.2:p.Ala2051Val
NM_001142864.3:c.6152C>T	NP_001136336.2:p.Ala2051Val
NM_001142864.4:c.6152C>T MANE Select	NP_001136336.2:p.Ala2051Val