Canonical Allele Identifier: CA8231842
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 440037
ClinVar RCV Id: RCV001692157 RCV001788242 RCV001788243
dbSNP Id: rs35159887
ExAC: 16:88787673 G / A
gnomAD v2: 16-88787673-G-A
gnomAD v3: 16-88721265-G-A
gnomAD v4: 16-88721265-G-A
MyVariant Identifiers: chr16:g.88787673G>A (hg19) chr16:g.88721265G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88721265G>A , CM000678.2:g.88721265G>A GRCh38
NC_000016.9:g.88787673G>A , CM000678.1:g.88787673G>A GRCh37
NC_000016.8:g.87315174G>A NCBI36
NG_042229.1:g.68956C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.5569C>T MANE Select ENSP00000301015.9:p.Pro1857Ser
ENST00000301015.13:c.5569C>T ENSP00000301015.9:p.Pro1857Ser
NM_001142864.2:c.5569C>T NP_001136336.2:p.Pro1857Ser
NM_001142864.3:c.5569C>T NP_001136336.2:p.Pro1857Ser
NM_001142864.4:c.5569C>T MANE Select NP_001136336.2:p.Pro1857Ser
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