Canonical Allele Identifier: CA8231662

Gene: PIEZO1

Linked Data

• dbSNP Id: rs758462734
• ExAC: 16:88786235 G / A
• gnomAD v2: 16-88786235-G-A
• gnomAD v4: 16-88719827-G-A
• MyVariant Identifiers: chr16:g.88786235G>A (hg19) ; chr16:g.88719827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719827G>A , CM000678.2:g.88719827G>A	GRCh38
NC_000016.9:g.88786235G>A , CM000678.1:g.88786235G>A	GRCh37
NC_000016.8:g.87313736G>A	NCBI36
NG_042229.1:g.70394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6298C>T MANE Select	ENSP00000301015.9:p.His2100Tyr
ENST00000466823.3:c.324C>T
ENST00000301015.13:c.6298C>T	ENSP00000301015.9:p.His2100Tyr
ENST00000419505.5:c.64C>T	ENSP00000406358.1:p.His22Tyr
ENST00000466823.2:c.324C>T
ENST00000495568.7:n.539C>T
ENST00000497793.2:n.453C>T
NM_001142864.2:c.6298C>T	NP_001136336.2:p.His2100Tyr
NM_001142864.3:c.6298C>T	NP_001136336.2:p.His2100Tyr
NM_001142864.4:c.6298C>T MANE Select	NP_001136336.2:p.His2100Tyr