Canonical Allele Identifier: CA397083789

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1175021313
• gnomAD v4: 16-88719802-C-T
• MyVariant Identifiers: chr16:g.88786210C>T (hg19) ; chr16:g.88719802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719802C>T , CM000678.2:g.88719802C>T	GRCh38
NC_000016.9:g.88786210C>T , CM000678.1:g.88786210C>T	GRCh37
NC_000016.8:g.87313711C>T	NCBI36
NG_042229.1:g.70419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6323G>A MANE Select	ENSP00000301015.9:p.Gly2108Glu
ENST00000466823.3:c.349G>A
ENST00000301015.13:c.6323G>A	ENSP00000301015.9:p.Gly2108Glu
ENST00000419505.5:c.89G>A	ENSP00000406358.1:p.Gly30Glu
ENST00000466823.2:c.349G>A
ENST00000495568.7:n.564G>A
ENST00000497793.2:n.478G>A
NM_001142864.2:c.6323G>A	NP_001136336.2:p.Gly2108Glu
NM_001142864.3:c.6323G>A	NP_001136336.2:p.Gly2108Glu
NM_001142864.4:c.6323G>A MANE Select	NP_001136336.2:p.Gly2108Glu