Canonical Allele Identifier: CA397082225

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719576-T-A
• MyVariant Identifiers: chr16:g.88785984T>A (hg19) ; chr16:g.88719576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719576T>A , CM000678.2:g.88719576T>A	GRCh38
NC_000016.9:g.88785984T>A , CM000678.1:g.88785984T>A	GRCh37
NC_000016.8:g.87313485T>A	NCBI36
NG_042229.1:g.70645A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6469A>T MANE Select	ENSP00000301015.9:p.Lys2157Ter
ENST00000466823.3:c.495A>T
ENST00000301015.13:c.6469A>T	ENSP00000301015.9:p.Lys2157Ter
ENST00000419505.5:c.235A>T	ENSP00000406358.1:p.Lys79Ter
ENST00000466823.2:c.495A>T
ENST00000495568.7:n.710A>T
ENST00000497793.2:n.624A>T
NM_001142864.2:c.6469A>T	NP_001136336.2:p.Lys2157Ter
NM_001142864.3:c.6469A>T	NP_001136336.2:p.Lys2157Ter
NM_001142864.4:c.6469A>T MANE Select	NP_001136336.2:p.Lys2157Ter