Canonical Allele Identifier: CA497364127

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719718-G-A
• MyVariant Identifiers: chr16:g.88786126G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719718G>A , CM000678.2:g.88719718G>A	GRCh38
NC_000016.9:g.88786126G>A , CM000678.1:g.88786126G>A	GRCh37
NC_000016.8:g.87313627G>A	NCBI36
NG_042229.1:g.70503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6327C>T MANE Select	ENSP00000301015.9:p.Phe2109=
ENST00000466823.3:c.353C>T
ENST00000301015.13:c.6327C>T	ENSP00000301015.9:p.Phe2109=
ENST00000419505.5:c.93C>T	ENSP00000406358.1:p.Phe31=
ENST00000466823.2:c.353C>T
ENST00000495568.7:n.568C>T
ENST00000497793.2:n.482C>T
NM_001142864.2:c.6327C>T	NP_001136336.2:p.Phe2109=
NM_001142864.3:c.6327C>T	NP_001136336.2:p.Phe2109=
NM_001142864.4:c.6327C>T MANE Select	NP_001136336.2:p.Phe2109=