Canonical Allele Identifier: CA497364052
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786101G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719693G>A , CM000678.2:g.88719693G>A GRCh38
NC_000016.9:g.88786101G>A , CM000678.1:g.88786101G>A GRCh37
NC_000016.8:g.87313602G>A NCBI36
NG_042229.1:g.70528C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6352C>T MANE Select ENSP00000301015.9:p.Leu2118=
ENST00000466823.3:c.378C>T
ENST00000301015.13:c.6352C>T ENSP00000301015.9:p.Leu2118=
ENST00000419505.5:c.118C>T ENSP00000406358.1:p.Leu40=
ENST00000466823.2:c.378C>T
ENST00000495568.7:n.593C>T
ENST00000497793.2:n.507C>T
NM_001142864.2:c.6352C>T NP_001136336.2:p.Leu2118=
NM_001142864.3:c.6352C>T NP_001136336.2:p.Leu2118=
NM_001142864.4:c.6352C>T MANE Select NP_001136336.2:p.Leu2118=