Canonical Allele Identifier: CA397083512

Gene: PIEZO1

Linked Data

• ClinVar Variation Id: 2633880
• ClinVar RCV Id: RCV003391663
• MyVariant Identifiers: chr16:g.88786104C>T (hg19) ; chr16:g.88719696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719696C>T , CM000678.2:g.88719696C>T	GRCh38
NC_000016.9:g.88786104C>T , CM000678.1:g.88786104C>T	GRCh37
NC_000016.8:g.87313605C>T	NCBI36
NG_042229.1:g.70525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6349G>A MANE Select	ENSP00000301015.9:p.Glu2117Lys
ENST00000466823.3:c.375G>A
ENST00000301015.13:c.6349G>A	ENSP00000301015.9:p.Glu2117Lys
ENST00000419505.5:c.115G>A	ENSP00000406358.1:p.Glu39Lys
ENST00000466823.2:c.375G>A
ENST00000495568.7:n.590G>A
ENST00000497793.2:n.504G>A
NM_001142864.2:c.6349G>A	NP_001136336.2:p.Glu2117Lys
NM_001142864.3:c.6349G>A	NP_001136336.2:p.Glu2117Lys
NM_001142864.4:c.6349G>A MANE Select	NP_001136336.2:p.Glu2117Lys