Canonical Allele Identifier: CA624448966

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1314360274
• gnomAD v2: 16-88786147-T-TC
• MyVariant Identifiers: chr16:g.88786147_88786148insC (hg19) ; chr16:g.88719739_88719740insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719742dup , CM000678.2:g.88719742dup	GRCh38
NC_000016.9:g.88786150dup , CM000678.1:g.88786150dup	GRCh37
NC_000016.8:g.87313651dup	NCBI36
NG_042229.1:g.70481dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6324-19dup MANE Select	ENSP00000301015.9:n.6324-19dup
ENST00000466823.3:c.350-19dup
ENST00000301015.13:c.6324-19dup	ENSP00000301015.9:n.6324-19dup
ENST00000419505.5:c.90-19dup	ENSP00000406358.1:n.90-19dup
ENST00000466823.2:c.350-19dup
ENST00000495568.7:n.565-19dup
ENST00000497793.2:n.479-19dup
NM_001142864.2:c.6324-19dup	NP_001136336.2:n.6324-19dup
NM_001142864.3:c.6324-19dup	NP_001136336.2:n.6324-19dup
NM_001142864.4:c.6324-19dup MANE Select	NP_001136336.2:n.6324-19dup