Canonical Allele Identifier: CA8231632
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs766270490
ExAC: 16:88785995 C / T
gnomAD v2: 16-88785995-C-T
gnomAD v3: 16-88719587-C-T
gnomAD v4: 16-88719587-C-T
MyVariant Identifiers: chr16:g.88785995C>T (hg19) chr16:g.88719587C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719587C>T , CM000678.2:g.88719587C>T GRCh38
NC_000016.9:g.88785995C>T , CM000678.1:g.88785995C>T GRCh37
NC_000016.8:g.87313496C>T NCBI36
NG_042229.1:g.70634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6458G>A MANE Select ENSP00000301015.9:p.Arg2153Gln
ENST00000466823.3:c.484G>A
ENST00000301015.13:c.6458G>A ENSP00000301015.9:p.Arg2153Gln
ENST00000419505.5:c.224G>A ENSP00000406358.1:p.Arg75Gln
ENST00000466823.2:c.484G>A
ENST00000495568.7:n.699G>A
ENST00000497793.2:n.613G>A
NM_001142864.2:c.6458G>A NP_001136336.2:p.Arg2153Gln
NM_001142864.3:c.6458G>A NP_001136336.2:p.Arg2153Gln
NM_001142864.4:c.6458G>A MANE Select NP_001136336.2:p.Arg2153Gln
Search 100 bp 5'
Search 100 bp 3'