Canonical Allele Identifier: CA497364623

Gene: PIEZO1

Linked Data

• dbSNP Id: rs2142759531
• gnomAD v4: 16-88719840-G-A
• MyVariant Identifiers: chr16:g.88786248G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719840G>A , CM000678.2:g.88719840G>A	GRCh38
NC_000016.9:g.88786248G>A , CM000678.1:g.88786248G>A	GRCh37
NC_000016.8:g.87313749G>A	NCBI36
NG_042229.1:g.70381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6285C>T MANE Select	ENSP00000301015.9:p.Thr2095=
ENST00000466823.3:c.311C>T
ENST00000301015.13:c.6285C>T	ENSP00000301015.9:p.Thr2095=
ENST00000419505.5:c.51C>T	ENSP00000406358.1:p.Thr17=
ENST00000466823.2:c.311C>T
ENST00000495568.7:n.526C>T
ENST00000497793.2:n.440C>T
NM_001142864.2:c.6285C>T	NP_001136336.2:p.Thr2095=
NM_001142864.3:c.6285C>T	NP_001136336.2:p.Thr2095=
NM_001142864.4:c.6285C>T MANE Select	NP_001136336.2:p.Thr2095=