Canonical Allele Identifier: CA497364033

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719682-C-A
• MyVariant Identifiers: chr16:g.88786090C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719682C>A , CM000678.2:g.88719682C>A	GRCh38
NC_000016.9:g.88786090C>A , CM000678.1:g.88786090C>A	GRCh37
NC_000016.8:g.87313591C>A	NCBI36
NG_042229.1:g.70539G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6363G>T MANE Select	ENSP00000301015.9:p.Val2121=
ENST00000466823.3:c.389G>T
ENST00000301015.13:c.6363G>T	ENSP00000301015.9:p.Val2121=
ENST00000419505.5:c.129G>T	ENSP00000406358.1:p.Val43=
ENST00000466823.2:c.389G>T
ENST00000495568.7:n.604G>T
ENST00000497793.2:n.518G>T
NM_001142864.2:c.6363G>T	NP_001136336.2:p.Val2121=
NM_001142864.3:c.6363G>T	NP_001136336.2:p.Val2121=
NM_001142864.4:c.6363G>T MANE Select	NP_001136336.2:p.Val2121=