Canonical Allele Identifier: CA397084200

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1912302214
• gnomAD v4: 16-88719838-T-C
• MyVariant Identifiers: chr16:g.88786246T>C (hg19) ; chr16:g.88719838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719838T>C , CM000678.2:g.88719838T>C	GRCh38
NC_000016.9:g.88786246T>C , CM000678.1:g.88786246T>C	GRCh37
NC_000016.8:g.87313747T>C	NCBI36
NG_042229.1:g.70383A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6287A>G MANE Select	ENSP00000301015.9:p.Lys2096Arg
ENST00000466823.3:c.313A>G
ENST00000301015.13:c.6287A>G	ENSP00000301015.9:p.Lys2096Arg
ENST00000419505.5:c.53A>G	ENSP00000406358.1:p.Lys18Arg
ENST00000466823.2:c.313A>G
ENST00000495568.7:n.528A>G
ENST00000497793.2:n.442A>G
NM_001142864.2:c.6287A>G	NP_001136336.2:p.Lys2096Arg
NM_001142864.3:c.6287A>G	NP_001136336.2:p.Lys2096Arg
NM_001142864.4:c.6287A>G MANE Select	NP_001136336.2:p.Lys2096Arg