Canonical Allele Identifier: CA286409288

Gene: PIEZO1

Linked Data

• dbSNP Id: rs983251847
• MyVariant Identifiers: chr16:g.88786147T>A (hg19) ; chr16:g.88719739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719739T>A , CM000678.2:g.88719739T>A	GRCh38
NC_000016.9:g.88786147T>A , CM000678.1:g.88786147T>A	GRCh37
NC_000016.8:g.87313648T>A	NCBI36
NG_042229.1:g.70482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6324-18A>T MANE Select	ENSP00000301015.9:n.6324-18A>T
ENST00000466823.3:c.350-18A>T
ENST00000301015.13:c.6324-18A>T	ENSP00000301015.9:n.6324-18A>T
ENST00000419505.5:c.90-18A>T	ENSP00000406358.1:n.90-18A>T
ENST00000466823.2:c.350-18A>T
ENST00000495568.7:n.565-18A>T
ENST00000497793.2:n.479-18A>T
NM_001142864.2:c.6324-18A>T	NP_001136336.2:n.6324-18A>T
NM_001142864.3:c.6324-18A>T	NP_001136336.2:n.6324-18A>T
NM_001142864.4:c.6324-18A>T MANE Select	NP_001136336.2:n.6324-18A>T