Canonical Allele Identifier: CA286423120
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs561264067
gnomAD v3: 16-88733920-G-C
gnomAD v4: 16-88733920-G-C
MyVariant Identifiers: chr16:g.88800328G>C (hg19) chr16:g.88733920G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733920G>C , CM000678.2:g.88733920G>C GRCh38
NC_000016.9:g.88800328G>C , CM000678.1:g.88800328G>C GRCh37
NC_000016.8:g.87327829G>C NCBI36
NG_042229.1:g.56301C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2315C>G (PIEZO1) MANE Select ENSP00000301015.9:p.Thr772Arg
ENST00000301015.13:c.2315C>G (PIEZO1) ENSP00000301015.9:p.Thr772Arg
NM_001142864.2:c.2315C>G (PIEZO1) NP_001136336.2:p.Thr772Arg
NM_001142864.3:c.2315C>G (PIEZO1) NP_001136336.2:p.Thr772Arg
NR_103774.1:n.269+2472G>C (HSALR1)
NM_001142864.4:c.2315C>G (PIEZO1) MANE Select NP_001136336.2:p.Thr772Arg
Search 100 bp 5'
Search 100 bp 3'