Canonical Allele Identifier: CA8232682

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 1330749
• ClinVar RCV Id: RCV001811846 ; RCV004040894
• dbSNP Id: rs770222800
• ExAC: 16:88798859 C / T
• gnomAD v2: 16-88798859-C-T
• gnomAD v3: 16-88732451-C-T
• gnomAD v4: 16-88732451-C-T
• MyVariant Identifiers: chr16:g.88798859C>T (hg19) ; chr16:g.88732451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732451C>T , CM000678.2:g.88732451C>T	GRCh38
NC_000016.9:g.88798859C>T , CM000678.1:g.88798859C>T	GRCh37
NC_000016.8:g.87326360C>T	NCBI36
NG_042229.1:g.57770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2875G>A (PIEZO1) MANE Select	ENSP00000301015.9:p.Ala959Thr
ENST00000301015.13:c.2875G>A (PIEZO1)	ENSP00000301015.9:p.Ala959Thr
NM_001142864.2:c.2875G>A (PIEZO1)	NP_001136336.2:p.Ala959Thr
NM_001142864.3:c.2875G>A (PIEZO1)	NP_001136336.2:p.Ala959Thr
NR_103774.1:n.269+1003C>T (HSALR1)
NM_001142864.4:c.2875G>A (PIEZO1) MANE Select	NP_001136336.2:p.Ala959Thr