Canonical Allele Identifier: CA14273483
Gene: PIEZO1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88745842T>C
GRCh37 chr16:g.88812250T>C
gnomAD v2:
16:88812250 T / C
gnomAD v3:
16:88745842 T / C
gnomAD v4:
chr16-88745842-T-C
Joint Max Group AF 0.68336649 (EAS)
Genomes Max Group AF 0.68336649 (EAS)
Exomes Max Group AF 0.17136067 (NFE)
dbSNP:
9788969
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88745842T>C , CM000678.2:g.88745842T>C GRCh38
NC_000016.9:g.88812250T>C , CM000678.1:g.88812250T>C GRCh37
NC_000016.8:g.87339751T>C NCBI36
NG_042229.1:g.44379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.161-3420A>G MANE Select ENSP00000301015.9:n.161-3420A>G
ENST00000301015.13:c.161-3420A>G ENSP00000301015.9:n.161-3420A>G
NM_001142864.2:c.161-3420A>G NP_001136336.2:n.161-3420A>G
NM_001142864.3:c.161-3420A>G NP_001136336.2:n.161-3420A>G
NM_001142864.4:c.161-3420A>G MANE Select NP_001136336.2:n.161-3420A>G
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