Canonical Allele Identifier: CA2241244312
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719699C= , CM000678.2:g.88719699C= GRCh38
NC_000016.9:g.88786107C= , CM000678.1:g.88786107C= GRCh37
NC_000016.8:g.87313608C= NCBI36
NG_042229.1:g.70522G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6346G= MANE Select ENSP00000301015.9:p.Val2116=
ENST00000466823.3:c.372G=
ENST00000301015.13:c.6346G= ENSP00000301015.9:p.Val2116=
ENST00000419505.5:c.112G= ENSP00000406358.1:p.Val38=
ENST00000466823.2:c.372G=
ENST00000495568.7:n.587G=
ENST00000497793.2:n.501G=
NM_001142864.2:c.6346G= NP_001136336.2:p.Val2116=
NM_001142864.3:c.6346G= NP_001136336.2:p.Val2116=
NM_001142864.4:c.6346G= MANE Select NP_001136336.2:p.Val2116=