Canonical Allele Identifier: CA2241244320
Gene: PIEZO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719707G= , CM000678.2:g.88719707G= GRCh38
NC_000016.9:g.88786115G= , CM000678.1:g.88786115G= GRCh37
NC_000016.8:g.87313616G= NCBI36
NG_042229.1:g.70514C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6338C= MANE Select ENSP00000301015.9:p.Pro2113=
ENST00000466823.3:c.364C=
ENST00000301015.13:c.6338C= ENSP00000301015.9:p.Pro2113=
ENST00000419505.5:c.104C= ENSP00000406358.1:p.Pro35=
ENST00000466823.2:c.364C=
ENST00000495568.7:n.579C=
ENST00000497793.2:n.493C=
NM_001142864.2:c.6338C= NP_001136336.2:p.Pro2113=
NM_001142864.3:c.6338C= NP_001136336.2:p.Pro2113=
NM_001142864.4:c.6338C= MANE Select NP_001136336.2:p.Pro2113=