Canonical Allele Identifier: CA286409277

Gene: PIEZO1

Linked Data

• dbSNP Id: rs761342639
• gnomAD v4: 16-88719631-A-C
• MyVariant Identifiers: chr16:g.88786039A>C (hg19) ; chr16:g.88719631A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719631A>C , CM000678.2:g.88719631A>C	GRCh38
NC_000016.9:g.88786039A>C , CM000678.1:g.88786039A>C	GRCh37
NC_000016.8:g.87313540A>C	NCBI36
NG_042229.1:g.70590T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6414T>G MANE Select	ENSP00000301015.9:p.Cys2138Trp
ENST00000466823.3:c.440T>G
ENST00000301015.13:c.6414T>G	ENSP00000301015.9:p.Cys2138Trp
ENST00000419505.5:c.180T>G	ENSP00000406358.1:p.Cys60Trp
ENST00000466823.2:c.440T>G
ENST00000495568.7:n.655T>G
ENST00000497793.2:n.569T>G
NM_001142864.2:c.6414T>G	NP_001136336.2:p.Cys2138Trp
NM_001142864.3:c.6414T>G	NP_001136336.2:p.Cys2138Trp
NM_001142864.4:c.6414T>G MANE Select	NP_001136336.2:p.Cys2138Trp