Canonical Allele Identifier: CA624448968

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1259895813
• gnomAD v2: 16-88786182-A-AC
• gnomAD v3: 16-88719774-A-AC
• gnomAD v4: 16-88719774-A-AC
• MyVariant Identifiers: chr16:g.88786182_88786183insC (hg19) ; chr16:g.88719774_88719775insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719779dup , CM000678.2:g.88719779dup	GRCh38
NC_000016.9:g.88786187dup , CM000678.1:g.88786187dup	GRCh37
NC_000016.8:g.87313688dup	NCBI36
NG_042229.1:g.70446dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6323+27dup MANE Select	ENSP00000301015.9:n.6323+27dup
ENST00000466823.3:c.349+27dup
ENST00000301015.13:c.6323+27dup	ENSP00000301015.9:n.6323+27dup
ENST00000419505.5:c.89+27dup	ENSP00000406358.1:n.89+27dup
ENST00000466823.2:c.349+27dup
ENST00000495568.7:n.564+27dup
ENST00000497793.2:n.478+27dup
NM_001142864.2:c.6323+27dup	NP_001136336.2:n.6323+27dup
NM_001142864.3:c.6323+27dup	NP_001136336.2:n.6323+27dup
NM_001142864.4:c.6323+27dup MANE Select	NP_001136336.2:n.6323+27dup