Canonical Allele Identifier: CA2241244305
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719692A= , CM000678.2:g.88719692A= GRCh38
NC_000016.9:g.88786100A= , CM000678.1:g.88786100A= GRCh37
NC_000016.8:g.87313601A= NCBI36
NG_042229.1:g.70529T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6353T= MANE Select ENSP00000301015.9:p.Leu2118=
ENST00000466823.3:c.379T=
ENST00000301015.13:c.6353T= ENSP00000301015.9:p.Leu2118=
ENST00000419505.5:c.119T= ENSP00000406358.1:p.Leu40=
ENST00000466823.2:c.379T=
ENST00000495568.7:n.594T=
ENST00000497793.2:n.508T=
NM_001142864.2:c.6353T= NP_001136336.2:p.Leu2118=
NM_001142864.3:c.6353T= NP_001136336.2:p.Leu2118=
NM_001142864.4:c.6353T= MANE Select NP_001136336.2:p.Leu2118=