Canonical Allele Identifier: CA8231646
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3035882
ClinVar RCV Id: RCV003912291
dbSNP Id: rs773087443

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719706C>T , CM000678.2:g.88719706C>T GRCh38
NC_000016.9:g.88786114C>T , CM000678.1:g.88786114C>T GRCh37
NC_000016.8:g.87313615C>T NCBI36
NG_042229.1:g.70515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6339G>A MANE Select ENSP00000301015.9:p.Pro2113=
ENST00000466823.3:c.365G>A
ENST00000301015.13:c.6339G>A ENSP00000301015.9:p.Pro2113=
ENST00000419505.5:c.105G>A ENSP00000406358.1:p.Pro35=
ENST00000466823.2:c.365G>A
ENST00000495568.7:n.580G>A
ENST00000497793.2:n.494G>A
NM_001142864.2:c.6339G>A NP_001136336.2:p.Pro2113=
NM_001142864.3:c.6339G>A NP_001136336.2:p.Pro2113=
NM_001142864.4:c.6339G>A MANE Select NP_001136336.2:p.Pro2113=