Canonical Allele Identifier: CA397082267

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1912280743
• gnomAD v4: 16-88719584-T-C
• MyVariant Identifiers: chr16:g.88785992T>C (hg19) ; chr16:g.88719584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719584T>C , CM000678.2:g.88719584T>C	GRCh38
NC_000016.9:g.88785992T>C , CM000678.1:g.88785992T>C	GRCh37
NC_000016.8:g.87313493T>C	NCBI36
NG_042229.1:g.70637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6461A>G MANE Select	ENSP00000301015.9:p.Glu2154Gly
ENST00000466823.3:c.487A>G
ENST00000301015.13:c.6461A>G	ENSP00000301015.9:p.Glu2154Gly
ENST00000419505.5:c.227A>G	ENSP00000406358.1:p.Glu76Gly
ENST00000466823.2:c.487A>G
ENST00000495568.7:n.702A>G
ENST00000497793.2:n.616A>G
NM_001142864.2:c.6461A>G	NP_001136336.2:p.Glu2154Gly
NM_001142864.3:c.6461A>G	NP_001136336.2:p.Glu2154Gly
NM_001142864.4:c.6461A>G MANE Select	NP_001136336.2:p.Glu2154Gly