Canonical Allele Identifier: CA497364603
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 737690
ClinVar RCV Id: RCV000913491
dbSNP Id: rs1178021816
gnomAD v2: 16-88786230-G-A
gnomAD v3: 16-88719822-G-A
gnomAD v4: 16-88719822-G-A
MyVariant Identifiers: chr16:g.88786230G>A (hg19) chr16:g.88719822G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719822G>A , CM000678.2:g.88719822G>A GRCh38
NC_000016.9:g.88786230G>A , CM000678.1:g.88786230G>A GRCh37
NC_000016.8:g.87313731G>A NCBI36
NG_042229.1:g.70399C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6303C>T MANE Select ENSP00000301015.9:p.Leu2101=
ENST00000466823.3:c.329C>T
ENST00000301015.13:c.6303C>T ENSP00000301015.9:p.Leu2101=
ENST00000419505.5:c.69C>T ENSP00000406358.1:p.Leu23=
ENST00000466823.2:c.329C>T
ENST00000495568.7:n.544C>T
ENST00000497793.2:n.458C>T
NM_001142864.2:c.6303C>T NP_001136336.2:p.Leu2101=
NM_001142864.3:c.6303C>T NP_001136336.2:p.Leu2101=
NM_001142864.4:c.6303C>T MANE Select NP_001136336.2:p.Leu2101=
Search 100 bp 5'
Search 100 bp 3'