Canonical Allele Identifier: CA2241244474
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719804C= , CM000678.2:g.88719804C= GRCh38
NC_000016.9:g.88786212C= , CM000678.1:g.88786212C= GRCh37
NC_000016.8:g.87313713C= NCBI36
NG_042229.1:g.70417G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6321G= MANE Select ENSP00000301015.9:p.Gln2107=
ENST00000466823.3:c.347G=
ENST00000301015.13:c.6321G= ENSP00000301015.9:p.Gln2107=
ENST00000419505.5:c.87G= ENSP00000406358.1:p.Gln29=
ENST00000466823.2:c.347G=
ENST00000495568.7:n.562G=
ENST00000497793.2:n.476G=
NM_001142864.2:c.6321G= NP_001136336.2:p.Gln2107=
NM_001142864.3:c.6321G= NP_001136336.2:p.Gln2107=
NM_001142864.4:c.6321G= MANE Select NP_001136336.2:p.Gln2107=