Canonical Allele Identifier: CA397109628
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1415941309

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732388G>C , CM000678.2:g.88732388G>C GRCh38
NC_000016.9:g.88798796G>C , CM000678.1:g.88798796G>C GRCh37
NC_000016.8:g.87326297G>C NCBI36
NG_042229.1:g.57833C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2938C>G (PIEZO1) MANE Select ENSP00000301015.9:p.Leu980Val
ENST00000301015.13:c.2938C>G (PIEZO1) ENSP00000301015.9:p.Leu980Val
NM_001142864.2:c.2938C>G (PIEZO1) NP_001136336.2:p.Leu980Val
NM_001142864.3:c.2938C>G (PIEZO1) NP_001136336.2:p.Leu980Val
NR_103774.1:n.269+940G>C (HSALR1)
NM_001142864.4:c.2938C>G (PIEZO1) MANE Select NP_001136336.2:p.Leu980Val