Canonical Allele Identifier: CA397084207

Gene: PIEZO1

Linked Data

• dbSNP Id: rs530443747
• gnomAD v4: 16-88719841-G-A
• MyVariant Identifiers: chr16:g.88786249G>A (hg19) ; chr16:g.88719841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719841G>A , CM000678.2:g.88719841G>A	GRCh38
NC_000016.9:g.88786249G>A , CM000678.1:g.88786249G>A	GRCh37
NC_000016.8:g.87313750G>A	NCBI36
NG_042229.1:g.70380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6284C>T MANE Select	ENSP00000301015.9:p.Thr2095Ile
ENST00000466823.3:c.310C>T
ENST00000301015.13:c.6284C>T	ENSP00000301015.9:p.Thr2095Ile
ENST00000419505.5:c.50C>T	ENSP00000406358.1:p.Thr17Ile
ENST00000466823.2:c.310C>T
ENST00000495568.7:n.525C>T
ENST00000497793.2:n.439C>T
NM_001142864.2:c.6284C>T	NP_001136336.2:p.Thr2095Ile
NM_001142864.3:c.6284C>T	NP_001136336.2:p.Thr2095Ile
NM_001142864.4:c.6284C>T MANE Select	NP_001136336.2:p.Thr2095Ile