Canonical Allele Identifier: CA286405923

Gene: PIEZO1

Linked Data

• ClinVar Variation Id: 2421652
• ClinVar RCV Id: RCV003115953
• dbSNP Id: rs374964860
• gnomAD v2: 16-88782117-G-A
• gnomAD v4: 16-88715709-G-A
• MyVariant Identifiers: chr16:g.88782117G>A (hg19) ; chr16:g.88715709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88715709G>A , CM000678.2:g.88715709G>A	GRCh38
NC_000016.9:g.88782117G>A , CM000678.1:g.88782117G>A	GRCh37
NC_000016.8:g.87309618G>A	NCBI36
NG_042229.1:g.74512C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.7462C>T MANE Select	ENSP00000301015.9:p.Arg2488Trp
ENST00000484567.6:n.2521C>T
ENST00000518793.6:c.294C>T
ENST00000301015.13:c.7462C>T	ENSP00000301015.9:p.Arg2488Trp
ENST00000327397.8:c.1028C>T	ENSP00000333704.7:p.Ala343Val
ENST00000419505.5:c.1269C>T	ENSP00000406358.1:n.1269C>T
ENST00000484567.5:n.2098C>T
ENST00000518793.5:c.294C>T
ENST00000521877.1:n.426C>T
NM_001142864.2:c.7462C>T	NP_001136336.2:p.Arg2488Trp
NM_001142864.3:c.7462C>T	NP_001136336.2:p.Arg2488Trp
NM_001142864.4:c.7462C>T MANE Select	NP_001136336.2:p.Arg2488Trp