Canonical Allele Identifier: CA397083539

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1220309162
• gnomAD v2: 16-88786107-C-T
• gnomAD v4: 16-88719699-C-T
• MyVariant Identifiers: chr16:g.88786107C>T (hg19) ; chr16:g.88719699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719699C>T , CM000678.2:g.88719699C>T	GRCh38
NC_000016.9:g.88786107C>T , CM000678.1:g.88786107C>T	GRCh37
NC_000016.8:g.87313608C>T	NCBI36
NG_042229.1:g.70522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6346G>A MANE Select	ENSP00000301015.9:p.Val2116Met
ENST00000466823.3:c.372G>A
ENST00000301015.13:c.6346G>A	ENSP00000301015.9:p.Val2116Met
ENST00000419505.5:c.112G>A	ENSP00000406358.1:p.Val38Met
ENST00000466823.2:c.372G>A
ENST00000495568.7:n.587G>A
ENST00000497793.2:n.501G>A
NM_001142864.2:c.6346G>A	NP_001136336.2:p.Val2116Met
NM_001142864.3:c.6346G>A	NP_001136336.2:p.Val2116Met
NM_001142864.4:c.6346G>A MANE Select	NP_001136336.2:p.Val2116Met