Canonical Allele Identifier: CA8232682
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330749
dbSNP Id: rs770222800

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732451C>T , CM000678.2:g.88732451C>T GRCh38
NC_000016.9:g.88798859C>T , CM000678.1:g.88798859C>T GRCh37
NC_000016.8:g.87326360C>T NCBI36
NG_042229.1:g.57770G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2875G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Ala959Thr
ENST00000301015.13:c.2875G>A (PIEZO1) ENSP00000301015.9:p.Ala959Thr
NM_001142864.2:c.2875G>A (PIEZO1) NP_001136336.2:p.Ala959Thr
NM_001142864.3:c.2875G>A (PIEZO1) NP_001136336.2:p.Ala959Thr
NR_103774.1:n.269+1003C>T (HSALR1)
NM_001142864.4:c.2875G>A (PIEZO1) MANE Select NP_001136336.2:p.Ala959Thr