Canonical Allele Identifier: CA8231660

Gene: PIEZO1

Linked Data

• ClinVar Variation Id: 808138
• ClinVar RCV Id: RCV000996381 ; RCV003943303
• dbSNP Id: rs531972155
• ExAC: 16:88786226 G / C
• gnomAD v2: 16-88786226-G-C
• gnomAD v3: 16-88719818-G-C
• gnomAD v4: 16-88719818-G-C
• MyVariant Identifiers: chr16:g.88786226G>C (hg19) ; chr16:g.88719818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719818G>C , CM000678.2:g.88719818G>C	GRCh38
NC_000016.9:g.88786226G>C , CM000678.1:g.88786226G>C	GRCh37
NC_000016.8:g.87313727G>C	NCBI36
NG_042229.1:g.70403C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6307C>G MANE Select	ENSP00000301015.9:p.Leu2103Val
ENST00000466823.3:c.333C>G
ENST00000301015.13:c.6307C>G	ENSP00000301015.9:p.Leu2103Val
ENST00000419505.5:c.73C>G	ENSP00000406358.1:p.Leu25Val
ENST00000466823.2:c.333C>G
ENST00000495568.7:n.548C>G
ENST00000497793.2:n.462C>G
NM_001142864.2:c.6307C>G	NP_001136336.2:p.Leu2103Val
NM_001142864.3:c.6307C>G	NP_001136336.2:p.Leu2103Val
NM_001142864.4:c.6307C>G MANE Select	NP_001136336.2:p.Leu2103Val