Canonical Allele Identifier: CA397110116
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732483C>A , CM000678.2:g.88732483C>A GRCh38
NC_000016.9:g.88798891C>A , CM000678.1:g.88798891C>A GRCh37
NC_000016.8:g.87326392C>A NCBI36
NG_042229.1:g.57738G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2843G>T (PIEZO1) MANE Select ENSP00000301015.9:p.Arg948Leu
ENST00000301015.13:c.2843G>T (PIEZO1) ENSP00000301015.9:p.Arg948Leu
ENST00000490756.1:n.427G>T (PIEZO1)
NM_001142864.2:c.2843G>T (PIEZO1) NP_001136336.2:p.Arg948Leu
NM_001142864.3:c.2843G>T (PIEZO1) NP_001136336.2:p.Arg948Leu
NR_103774.1:n.269+1035C>A (HSALR1)
NM_001142864.4:c.2843G>T (PIEZO1) MANE Select NP_001136336.2:p.Arg948Leu