Canonical Allele Identifier: CA2241244868
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720087A= , CM000678.2:g.88720087A= GRCh38
NC_000016.9:g.88786495A= , CM000678.1:g.88786495A= GRCh37
NC_000016.8:g.87313996A= NCBI36
NG_042229.1:g.70134T=

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6146T= MANE Select ENSP00000301015.9:p.Leu2049=
ENST00000466823.3:c.172T=
ENST00000301015.13:c.6146T= ENSP00000301015.9:p.Leu2049=
ENST00000466823.2:c.172T=
ENST00000495568.7:n.387T=
ENST00000497793.2:n.301T=
NM_001142864.2:c.6146T= NP_001136336.2:p.Leu2049=
NM_001142864.3:c.6146T= NP_001136336.2:p.Leu2049=
NM_001142864.4:c.6146T= MANE Select NP_001136336.2:p.Leu2049=