Canonical Allele Identifier: CA397109318
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1480163038

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732346A>G , CM000678.2:g.88732346A>G GRCh38
NC_000016.9:g.88798754A>G , CM000678.1:g.88798754A>G GRCh37
NC_000016.8:g.87326255A>G NCBI36
NG_042229.1:g.57875T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2980T>C (PIEZO1) MANE Select ENSP00000301015.9:p.Phe994Leu
ENST00000301015.13:c.2980T>C (PIEZO1) ENSP00000301015.9:p.Phe994Leu
NM_001142864.2:c.2980T>C (PIEZO1) NP_001136336.2:p.Phe994Leu
NM_001142864.3:c.2980T>C (PIEZO1) NP_001136336.2:p.Phe994Leu
NR_103774.1:n.269+898A>G (HSALR1)
NM_001142864.4:c.2980T>C (PIEZO1) MANE Select NP_001136336.2:p.Phe994Leu