Canonical Allele Identifier: CA8232815
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs762232853

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733944C>T , CM000678.2:g.88733944C>T GRCh38
NC_000016.9:g.88800352C>T , CM000678.1:g.88800352C>T GRCh37
NC_000016.8:g.87327853C>T NCBI36
NG_042229.1:g.56277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2291G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Gly764Asp
ENST00000301015.13:c.2291G>A (PIEZO1) ENSP00000301015.9:p.Gly764Asp
NM_001142864.2:c.2291G>A (PIEZO1) NP_001136336.2:p.Gly764Asp
NM_001142864.3:c.2291G>A (PIEZO1) NP_001136336.2:p.Gly764Asp
NR_103774.1:n.269+2496C>T (HSALR1)
NM_001142864.4:c.2291G>A (PIEZO1) MANE Select NP_001136336.2:p.Gly764Asp