Canonical Allele Identifier: CA397083331

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1429033873
• gnomAD v2: 16-88786083-A-T
• gnomAD v4: 16-88719675-A-T
• MyVariant Identifiers: chr16:g.88786083A>T (hg19) ; chr16:g.88719675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719675A>T , CM000678.2:g.88719675A>T	GRCh38
NC_000016.9:g.88786083A>T , CM000678.1:g.88786083A>T	GRCh37
NC_000016.8:g.87313584A>T	NCBI36
NG_042229.1:g.70546T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6370T>A MANE Select	ENSP00000301015.9:p.Trp2124Arg
ENST00000466823.3:c.396T>A
ENST00000301015.13:c.6370T>A	ENSP00000301015.9:p.Trp2124Arg
ENST00000419505.5:c.136T>A	ENSP00000406358.1:p.Trp46Arg
ENST00000466823.2:c.396T>A
ENST00000495568.7:n.611T>A
ENST00000497793.2:n.525T>A
NM_001142864.2:c.6370T>A	NP_001136336.2:p.Trp2124Arg
NM_001142864.3:c.6370T>A	NP_001136336.2:p.Trp2124Arg
NM_001142864.4:c.6370T>A MANE Select	NP_001136336.2:p.Trp2124Arg