Canonical Allele Identifier: CA082757
Gene: PIEZO1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88727144G>A
GRCh37 chr16:g.88793552G>A
Revel Score:
ENST00000301015 (MANE Select) 0.099
gnomAD v2:
16:88793552 G / A
gnomAD v4:
chr16-88727144-G-A
Joint Max Group AF 0.00000515 (NFE)
Exomes Max Group AF 0.00000547 (NFE)
ClinVar RCV:
RCV003955382
ClinVar Variation:
242667
dbSNP:
587777765
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88727144G>A , CM000678.2:g.88727144G>A GRCh38
NC_000016.9:g.88793552G>A , CM000678.1:g.88793552G>A GRCh37
NC_000016.8:g.87321053G>A NCBI36
NG_042229.1:g.63077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.3350C>T MANE Select ENSP00000301015.9:p.Ser1117Leu
ENST00000491917.2:n.336C>T
ENST00000301015.13:c.3350C>T ENSP00000301015.9:p.Ser1117Leu
ENST00000491917.1:n.336C>T
NM_001142864.2:c.3350C>T NP_001136336.2:p.Ser1117Leu
NM_001142864.3:c.3350C>T NP_001136336.2:p.Ser1117Leu
NM_001142864.4:c.3350C>T MANE Select NP_001136336.2:p.Ser1117Leu
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