Canonical Allele Identifier: CA497364612

Gene: PIEZO1

Linked Data

• dbSNP Id: rs2142759487
• MyVariant Identifiers: chr16:g.88786233A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719825A>G , CM000678.2:g.88719825A>G	GRCh38
NC_000016.9:g.88786233A>G , CM000678.1:g.88786233A>G	GRCh37
NC_000016.8:g.87313734A>G	NCBI36
NG_042229.1:g.70396T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6300T>C MANE Select	ENSP00000301015.9:p.His2100=
ENST00000466823.3:c.326T>C
ENST00000301015.13:c.6300T>C	ENSP00000301015.9:p.His2100=
ENST00000419505.5:c.66T>C	ENSP00000406358.1:p.His22=
ENST00000466823.2:c.326T>C
ENST00000495568.7:n.541T>C
ENST00000497793.2:n.455T>C
NM_001142864.2:c.6300T>C	NP_001136336.2:p.His2100=
NM_001142864.3:c.6300T>C	NP_001136336.2:p.His2100=
NM_001142864.4:c.6300T>C MANE Select	NP_001136336.2:p.His2100=