Canonical Allele Identifier: CA286408769

Gene: PIEZO1

Linked Data

• dbSNP Id: rs929043932
• gnomAD v2: 16-88785976-A-G
• gnomAD v4: 16-88719568-A-G
• MyVariant Identifiers: chr16:g.88785976A>G (hg19) ; chr16:g.88719568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719568A>G , CM000678.2:g.88719568A>G	GRCh38
NC_000016.9:g.88785976A>G , CM000678.1:g.88785976A>G	GRCh37
NC_000016.8:g.87313477A>G	NCBI36
NG_042229.1:g.70653T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6471+6T>C MANE Select	ENSP00000301015.9:n.6471+6T>C
ENST00000466823.3:c.497+6T>C
ENST00000301015.13:c.6471+6T>C	ENSP00000301015.9:n.6471+6T>C
ENST00000419505.5:c.237+6T>C	ENSP00000406358.1:n.237+6T>C
ENST00000466823.2:c.497+6T>C
ENST00000495568.7:n.712+6T>C
ENST00000497793.2:n.632T>C
NM_001142864.2:c.6471+6T>C	NP_001136336.2:n.6471+6T>C
NM_001142864.3:c.6471+6T>C	NP_001136336.2:n.6471+6T>C
NM_001142864.4:c.6471+6T>C MANE Select	NP_001136336.2:n.6471+6T>C