Canonical Allele Identifier: CA2241244532
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719838T= , CM000678.2:g.88719838T= GRCh38
NC_000016.9:g.88786246T= , CM000678.1:g.88786246T= GRCh37
NC_000016.8:g.87313747T= NCBI36
NG_042229.1:g.70383A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6287A= MANE Select ENSP00000301015.9:p.Lys2096=
ENST00000466823.3:c.313A=
ENST00000301015.13:c.6287A= ENSP00000301015.9:p.Lys2096=
ENST00000419505.5:c.53A= ENSP00000406358.1:p.Lys18=
ENST00000466823.2:c.313A=
ENST00000495568.7:n.528A=
ENST00000497793.2:n.442A=
NM_001142864.2:c.6287A= NP_001136336.2:p.Lys2096=
NM_001142864.3:c.6287A= NP_001136336.2:p.Lys2096=
NM_001142864.4:c.6287A= MANE Select NP_001136336.2:p.Lys2096=