Canonical Allele Identifier: CA497364585

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719810-G-A
• MyVariant Identifiers: chr16:g.88786218G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719810G>A , CM000678.2:g.88719810G>A	GRCh38
NC_000016.9:g.88786218G>A , CM000678.1:g.88786218G>A	GRCh37
NC_000016.8:g.87313719G>A	NCBI36
NG_042229.1:g.70411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6315C>T MANE Select	ENSP00000301015.9:p.Leu2105=
ENST00000466823.3:c.341C>T
ENST00000301015.13:c.6315C>T	ENSP00000301015.9:p.Leu2105=
ENST00000419505.5:c.81C>T	ENSP00000406358.1:p.Leu27=
ENST00000466823.2:c.341C>T
ENST00000495568.7:n.556C>T
ENST00000497793.2:n.470C>T
NM_001142864.2:c.6315C>T	NP_001136336.2:p.Leu2105=
NM_001142864.3:c.6315C>T	NP_001136336.2:p.Leu2105=
NM_001142864.4:c.6315C>T MANE Select	NP_001136336.2:p.Leu2105=