Canonical Allele Identifier: CA286408774

Gene: PIEZO1

Linked Data

• dbSNP Id: rs749813208
• gnomAD v3: 16-88719569-G-A
• gnomAD v4: 16-88719569-G-A
• MyVariant Identifiers: chr16:g.88785977G>A (hg19) ; chr16:g.88719569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719569G>A , CM000678.2:g.88719569G>A	GRCh38
NC_000016.9:g.88785977G>A , CM000678.1:g.88785977G>A	GRCh37
NC_000016.8:g.87313478G>A	NCBI36
NG_042229.1:g.70652C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6471+5C>T MANE Select	ENSP00000301015.9:n.6471+5C>T
ENST00000466823.3:c.497+5C>T
ENST00000301015.13:c.6471+5C>T	ENSP00000301015.9:n.6471+5C>T
ENST00000419505.5:c.237+5C>T	ENSP00000406358.1:n.237+5C>T
ENST00000466823.2:c.497+5C>T
ENST00000495568.7:n.712+5C>T
ENST00000497793.2:n.631C>T
NM_001142864.2:c.6471+5C>T	NP_001136336.2:n.6471+5C>T
NM_001142864.3:c.6471+5C>T	NP_001136336.2:n.6471+5C>T
NM_001142864.4:c.6471+5C>T MANE Select	NP_001136336.2:n.6471+5C>T