Canonical Allele Identifier: CA397082871

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1180084199
• gnomAD v2: 16-88786026-A-G
• gnomAD v4: 16-88719618-A-G
• MyVariant Identifiers: chr16:g.88786026A>G (hg19) ; chr16:g.88719618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719618A>G , CM000678.2:g.88719618A>G	GRCh38
NC_000016.9:g.88786026A>G , CM000678.1:g.88786026A>G	GRCh37
NC_000016.8:g.87313527A>G	NCBI36
NG_042229.1:g.70603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6427T>C MANE Select	ENSP00000301015.9:p.Tyr2143His
ENST00000466823.3:c.453T>C
ENST00000301015.13:c.6427T>C	ENSP00000301015.9:p.Tyr2143His
ENST00000419505.5:c.193T>C	ENSP00000406358.1:p.Tyr65His
ENST00000466823.2:c.453T>C
ENST00000495568.7:n.668T>C
ENST00000497793.2:n.582T>C
NM_001142864.2:c.6427T>C	NP_001136336.2:p.Tyr2143His
NM_001142864.3:c.6427T>C	NP_001136336.2:p.Tyr2143His
NM_001142864.4:c.6427T>C MANE Select	NP_001136336.2:p.Tyr2143His