Canonical Allele Identifier: CA2241244116

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1912278489
• gnomAD v4: 16-88719551-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719556dup , CM000678.2:g.88719556dup	GRCh38
NC_000016.9:g.88785964dup , CM000678.1:g.88785964dup	GRCh37
NC_000016.8:g.87313465dup	NCBI36
NG_042229.1:g.70669dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6471+22dup MANE Select	ENSP00000301015.9:n.6471+22dup
ENST00000466823.3:c.497+22dup
ENST00000301015.13:c.6471+22dup	ENSP00000301015.9:n.6471+22dup
ENST00000419505.5:c.237+22dup	ENSP00000406358.1:n.237+22dup
ENST00000466823.2:c.497+22dup
ENST00000495568.7:n.712+22dup
ENST00000497793.2:n.648dup
NM_001142864.2:c.6471+22dup	NP_001136336.2:n.6471+22dup
NM_001142864.3:c.6471+22dup	NP_001136336.2:n.6471+22dup
NM_001142864.4:c.6471+22dup MANE Select	NP_001136336.2:n.6471+22dup