Canonical Allele Identifier: CA397083291

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1435445449
• gnomAD v4: 16-88719672-C-A
• MyVariant Identifiers: chr16:g.88786080C>A (hg19) ; chr16:g.88719672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719672C>A , CM000678.2:g.88719672C>A	GRCh38
NC_000016.9:g.88786080C>A , CM000678.1:g.88786080C>A	GRCh37
NC_000016.8:g.87313581C>A	NCBI36
NG_042229.1:g.70549G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6373G>T MANE Select	ENSP00000301015.9:p.Val2125Leu
ENST00000466823.3:c.399G>T
ENST00000301015.13:c.6373G>T	ENSP00000301015.9:p.Val2125Leu
ENST00000419505.5:c.139G>T	ENSP00000406358.1:p.Val47Leu
ENST00000466823.2:c.399G>T
ENST00000495568.7:n.614G>T
ENST00000497793.2:n.528G>T
NM_001142864.2:c.6373G>T	NP_001136336.2:p.Val2125Leu
NM_001142864.3:c.6373G>T	NP_001136336.2:p.Val2125Leu
NM_001142864.4:c.6373G>T MANE Select	NP_001136336.2:p.Val2125Leu