Canonical Allele Identifier: CA082796

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 242665
• ClinVar RCV Id: RCV003320464 ; RCV003977698
• dbSNP Id: rs200970763
• ExAC: 16:88800139 C / T
• gnomAD v2: 16-88800139-C-T
• gnomAD v3: 16-88733731-C-T
• gnomAD v4: 16-88733731-C-T
• COSMIC: COSM4654764
• MyVariant Identifiers: chr16:g.88800139C>T (hg19) ; chr16:g.88733731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733731C>T , CM000678.2:g.88733731C>T	GRCh38
NC_000016.9:g.88800139C>T , CM000678.1:g.88800139C>T	GRCh37
NC_000016.8:g.87327640C>T	NCBI36
NG_042229.1:g.56490G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.2344G>A (PIEZO1) MANE Select	ENSP00000301015.9:p.Gly782Ser
ENST00000301015.13:c.2344G>A (PIEZO1)	ENSP00000301015.9:p.Gly782Ser
NM_001142864.2:c.2344G>A (PIEZO1)	NP_001136336.2:p.Gly782Ser
NM_001142864.3:c.2344G>A (PIEZO1)	NP_001136336.2:p.Gly782Ser
NR_103774.1:n.269+2283C>T (HSALR1)
NM_001142864.4:c.2344G>A (PIEZO1) MANE Select	NP_001136336.2:p.Gly782Ser