Canonical Allele Identifier: CA8232816
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3017237
ClinVar RCV Id: RCV003871356 RCV004369626
dbSNP Id: rs545384132
ExAC: 16:88800358 C / T
gnomAD v2: 16-88800358-C-T
gnomAD v3: 16-88733950-C-T
gnomAD v4: 16-88733950-C-T
MyVariant Identifiers: chr16:g.88800358C>T (hg19) chr16:g.88733950C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733950C>T , CM000678.2:g.88733950C>T GRCh38
NC_000016.9:g.88800358C>T , CM000678.1:g.88800358C>T GRCh37
NC_000016.8:g.87327859C>T NCBI36
NG_042229.1:g.56271G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2285G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Gly762Glu
ENST00000301015.13:c.2285G>A (PIEZO1) ENSP00000301015.9:p.Gly762Glu
NM_001142864.2:c.2285G>A (PIEZO1) NP_001136336.2:p.Gly762Glu
NM_001142864.3:c.2285G>A (PIEZO1) NP_001136336.2:p.Gly762Glu
NR_103774.1:n.269+2502C>T (HSALR1)
NM_001142864.4:c.2285G>A (PIEZO1) MANE Select NP_001136336.2:p.Gly762Glu
Search 100 bp 5'
Search 100 bp 3'