Canonical Allele Identifier: CA2241244870
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720088G= , CM000678.2:g.88720088G= GRCh38
NC_000016.9:g.88786496G= , CM000678.1:g.88786496G= GRCh37
NC_000016.8:g.87313997G= NCBI36
NG_042229.1:g.70133C=

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6145C= MANE Select ENSP00000301015.9:p.Leu2049=
ENST00000466823.3:c.171C=
ENST00000301015.13:c.6145C= ENSP00000301015.9:p.Leu2049=
ENST00000466823.2:c.171C=
ENST00000495568.7:n.386C=
ENST00000497793.2:n.300C=
NM_001142864.2:c.6145C= NP_001136336.2:p.Leu2049=
NM_001142864.3:c.6145C= NP_001136336.2:p.Leu2049=
NM_001142864.4:c.6145C= MANE Select NP_001136336.2:p.Leu2049=