Canonical Allele Identifier: CA397082219

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719575-T-C
• MyVariant Identifiers: chr16:g.88785983T>C (hg19) ; chr16:g.88719575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719575T>C , CM000678.2:g.88719575T>C	GRCh38
NC_000016.9:g.88785983T>C , CM000678.1:g.88785983T>C	GRCh37
NC_000016.8:g.87313484T>C	NCBI36
NG_042229.1:g.70646A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6470A>G MANE Select	ENSP00000301015.9:p.Lys2157Arg
ENST00000466823.3:c.496A>G
ENST00000301015.13:c.6470A>G	ENSP00000301015.9:p.Lys2157Arg
ENST00000419505.5:c.236A>G	ENSP00000406358.1:p.Lys79Arg
ENST00000466823.2:c.496A>G
ENST00000495568.7:n.711A>G
ENST00000497793.2:n.625A>G
NM_001142864.2:c.6470A>G	NP_001136336.2:p.Lys2157Arg
NM_001142864.3:c.6470A>G	NP_001136336.2:p.Lys2157Arg
NM_001142864.4:c.6470A>G MANE Select	NP_001136336.2:p.Lys2157Arg