Canonical Allele Identifier: CA397084080
Gene: PIEZO1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719826T>G , CM000678.2:g.88719826T>G GRCh38
NC_000016.9:g.88786234T>G , CM000678.1:g.88786234T>G GRCh37
NC_000016.8:g.87313735T>G NCBI36
NG_042229.1:g.70395A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6299A>C MANE Select ENSP00000301015.9:p.His2100Pro
ENST00000466823.3:c.325A>C
ENST00000301015.13:c.6299A>C ENSP00000301015.9:p.His2100Pro
ENST00000419505.5:c.65A>C ENSP00000406358.1:p.His22Pro
ENST00000466823.2:c.325A>C
ENST00000495568.7:n.540A>C
ENST00000497793.2:n.454A>C
NM_001142864.2:c.6299A>C NP_001136336.2:p.His2100Pro
NM_001142864.3:c.6299A>C NP_001136336.2:p.His2100Pro
NM_001142864.4:c.6299A>C MANE Select NP_001136336.2:p.His2100Pro