Canonical Allele Identifier: CA397109594
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689702
ClinVar RCV Id: RCV003488209
dbSNP Id: rs1216285611

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732384C>T , CM000678.2:g.88732384C>T GRCh38
NC_000016.9:g.88798792C>T , CM000678.1:g.88798792C>T GRCh37
NC_000016.8:g.87326293C>T NCBI36
NG_042229.1:g.57837G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2942G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Gly981Asp
ENST00000301015.13:c.2942G>A (PIEZO1) ENSP00000301015.9:p.Gly981Asp
NM_001142864.2:c.2942G>A (PIEZO1) NP_001136336.2:p.Gly981Asp
NM_001142864.3:c.2942G>A (PIEZO1) NP_001136336.2:p.Gly981Asp
NR_103774.1:n.269+936C>T (HSALR1)
NM_001142864.4:c.2942G>A (PIEZO1) MANE Select NP_001136336.2:p.Gly981Asp