Canonical Allele Identifier: CA397083439
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1403034076

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6356G>T MANE Select ENSP00000301015.9:p.Arg2119Leu
ENST00000466823.3:c.382G>T
ENST00000301015.13:c.6356G>T ENSP00000301015.9:p.Arg2119Leu
ENST00000419505.5:c.122G>T ENSP00000406358.1:p.Arg41Leu
ENST00000466823.2:c.382G>T
ENST00000495568.7:n.597G>T
ENST00000497793.2:n.511G>T
NM_001142864.2:c.6356G>T NP_001136336.2:p.Arg2119Leu
NM_001142864.3:c.6356G>T NP_001136336.2:p.Arg2119Leu
NM_001142864.4:c.6356G>T MANE Select NP_001136336.2:p.Arg2119Leu