Canonical Allele Identifier: CA2241244300
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719689C= , CM000678.2:g.88719689C= GRCh38
NC_000016.9:g.88786097C= , CM000678.1:g.88786097C= GRCh37
NC_000016.8:g.87313598C= NCBI36
NG_042229.1:g.70532G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6356G= MANE Select ENSP00000301015.9:p.Arg2119=
ENST00000466823.3:c.382G=
ENST00000301015.13:c.6356G= ENSP00000301015.9:p.Arg2119=
ENST00000419505.5:c.122G= ENSP00000406358.1:p.Arg41=
ENST00000466823.2:c.382G=
ENST00000495568.7:n.597G=
ENST00000497793.2:n.511G=
NM_001142864.2:c.6356G= NP_001136336.2:p.Arg2119=
NM_001142864.3:c.6356G= NP_001136336.2:p.Arg2119=
NM_001142864.4:c.6356G= MANE Select NP_001136336.2:p.Arg2119=