Canonical Allele Identifier: CA8232676

Gene: PIEZO1 HSALR1

Linked Data

• ClinVar Variation Id: 748172
• ClinVar RCV Id: RCV000924947 ; RCV003960435
• dbSNP Id: rs754595848
• ExAC: 16:88798827 G / A
• gnomAD v2: 16-88798827-G-A
• gnomAD v3: 16-88732419-G-A
• gnomAD v4: 16-88732419-G-A
• MyVariant Identifiers: chr16:g.88798827G>A (hg19) ; chr16:g.88732419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732419G>A , CM000678.2:g.88732419G>A	GRCh38
NC_000016.9:g.88798827G>A , CM000678.1:g.88798827G>A	GRCh37
NC_000016.8:g.87326328G>A	NCBI36
NG_042229.1:g.57802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2907C>T (PIEZO1) MANE Select	ENSP00000301015.9:p.Ser969=
ENST00000301015.13:c.2907C>T (PIEZO1)	ENSP00000301015.9:p.Ser969=
NM_001142864.2:c.2907C>T (PIEZO1)	NP_001136336.2:p.Ser969=
NM_001142864.3:c.2907C>T (PIEZO1)	NP_001136336.2:p.Ser969=
NR_103774.1:n.269+971G>A (HSALR1)
NM_001142864.4:c.2907C>T (PIEZO1) MANE Select	NP_001136336.2:p.Ser969=