Canonical Allele Identifier: CA397083543
Gene: PIEZO1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719701A>C , CM000678.2:g.88719701A>C GRCh38
NC_000016.9:g.88786109A>C , CM000678.1:g.88786109A>C GRCh37
NC_000016.8:g.87313610A>C NCBI36
NG_042229.1:g.70520T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6344T>G MANE Select ENSP00000301015.9:p.Leu2115Arg
ENST00000466823.3:c.370T>G
ENST00000301015.13:c.6344T>G ENSP00000301015.9:p.Leu2115Arg
ENST00000419505.5:c.110T>G ENSP00000406358.1:p.Leu37Arg
ENST00000466823.2:c.370T>G
ENST00000495568.7:n.585T>G
ENST00000497793.2:n.499T>G
NM_001142864.2:c.6344T>G NP_001136336.2:p.Leu2115Arg
NM_001142864.3:c.6344T>G NP_001136336.2:p.Leu2115Arg
NM_001142864.4:c.6344T>G MANE Select NP_001136336.2:p.Leu2115Arg