Canonical Allele Identifier: CA286423333

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 2434788
• ClinVar RCV Id: RCV003134880
• dbSNP Id: rs1005608662
• gnomAD v2: 16-88800392-C-G
• gnomAD v3: 16-88733984-C-G
• gnomAD v4: 16-88733984-C-G
• MyVariant Identifiers: chr16:g.88800392C>G (hg19) ; chr16:g.88800392_88800398delinsGCTCCTG (hg19) ; chr16:g.88800392_88800413delinsGCTCCTGCTGCTGCTGCTGATG (hg19) ; chr16:g.88733984C>G (hg38) ; chr16:g.88733984_88733990delinsGCTCCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733984C>G , CM000678.2:g.88733984C>G	GRCh38
NC_000016.9:g.88800392C>G , CM000678.1:g.88800392C>G	GRCh37
NC_000016.8:g.87327893C>G	NCBI36
NG_042229.1:g.56237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2251G>C (PIEZO1) MANE Select	ENSP00000301015.9:p.Glu751Gln
ENST00000301015.13:c.2251G>C (PIEZO1)	ENSP00000301015.9:p.Glu751Gln
NM_001142864.2:c.2251G>C (PIEZO1)	NP_001136336.2:p.Glu751Gln
NM_001142864.3:c.2251G>C (PIEZO1)	NP_001136336.2:p.Glu751Gln
NR_103774.1:n.269+2536C>G (HSALR1)
NM_001142864.4:c.2251G>C (PIEZO1) MANE Select	NP_001136336.2:p.Glu751Gln