Canonical Allele Identifier: CA286420577

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 3041024
• ClinVar RCV Id: RCV003929481
• dbSNP Id: rs758152024
• gnomAD v2: 16-88798947-C-T
• gnomAD v4: 16-88732539-C-T
• MyVariant Identifiers: chr16:g.88798947C>T (hg19) ; chr16:g.88732539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732539C>T , CM000678.2:g.88732539C>T	GRCh38
NC_000016.9:g.88798947C>T , CM000678.1:g.88798947C>T	GRCh37
NC_000016.8:g.87326448C>T	NCBI36
NG_042229.1:g.57682G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2791-4G>A (PIEZO1) MANE Select	ENSP00000301015.9:n.2791-4G>A
ENST00000301015.13:c.2791-4G>A (PIEZO1)	ENSP00000301015.9:n.2791-4G>A
ENST00000490756.1:n.375-4G>A (PIEZO1)
NM_001142864.2:c.2791-4G>A (PIEZO1)	NP_001136336.2:n.2791-4G>A
NM_001142864.3:c.2791-4G>A (PIEZO1)	NP_001136336.2:n.2791-4G>A
NR_103774.1:n.269+1091C>T (HSALR1)
NM_001142864.4:c.2791-4G>A (PIEZO1) MANE Select	NP_001136336.2:n.2791-4G>A