Canonical Allele Identifier: CA286423429

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 989266
• ClinVar RCV Id: RCV001270740 ; RCV003235530
• dbSNP Id: rs985377446
• gnomAD v2: 16-88800434-G-T
• gnomAD v3: 16-88734026-G-T
• gnomAD v4: 16-88734026-G-T
• MyVariant Identifiers: chr16:g.88800434G>T (hg19) ; chr16:g.88734026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88734026G>T , CM000678.2:g.88734026G>T	GRCh38
NC_000016.9:g.88800434G>T , CM000678.1:g.88800434G>T	GRCh37
NC_000016.8:g.87327935G>T	NCBI36
NG_042229.1:g.56195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2209C>A (PIEZO1) MANE Select	ENSP00000301015.9:p.Leu737Met
ENST00000301015.13:c.2209C>A (PIEZO1)	ENSP00000301015.9:p.Leu737Met
NM_001142864.2:c.2209C>A (PIEZO1)	NP_001136336.2:p.Leu737Met
NM_001142864.3:c.2209C>A (PIEZO1)	NP_001136336.2:p.Leu737Met
NR_103774.1:n.269+2578G>T (HSALR1)
NM_001142864.4:c.2209C>A (PIEZO1) MANE Select	NP_001136336.2:p.Leu737Met