Canonical Allele Identifier: CA8231377
Gene: PIEZO1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.88716030C>G
GRCh37 chr16:g.88782438C>G
Revel Score:
ENST00000301015 (MANE Select) 0.201
ENST00000327397 0.201
ENST00000451779 0.048
gnomAD v2:
16:88782438 C / G
gnomAD v3:
16:88716030 C / G
gnomAD v4:
chr16-88716030-C-G
Joint Max Group AF 0.00066455 (MID)
Genomes Max Group AF 0.00021798 (NFE)
Exomes Max Group AF 0.00069879 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88716030C>G , CM000678.2:g.88716030C>G GRCh38
NC_000016.9:g.88782438C>G , CM000678.1:g.88782438C>G GRCh37
NC_000016.8:g.87309939C>G NCBI36
NG_042229.1:g.74191G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.7219G>C MANE Select ENSP00000301015.9:p.Glu2407Gln
ENST00000484567.6:n.2278G>C
ENST00000518793.6:c.104-53G>C
ENST00000301015.13:c.7219G>C ENSP00000301015.9:p.Glu2407Gln
ENST00000327397.8:c.823G>C ENSP00000333704.7:p.Glu275Gln
ENST00000419505.5:c.1064G>C ENSP00000406358.1:n.1064G>C
ENST00000472168.1:n.527G>C
ENST00000484567.5:n.1855G>C
ENST00000518793.5:c.104-53G>C
ENST00000521877.1:n.183G>C
NM_001142864.2:c.7219G>C NP_001136336.2:p.Glu2407Gln
NM_001142864.3:c.7219G>C NP_001136336.2:p.Glu2407Gln
NM_001142864.4:c.7219G>C MANE Select NP_001136336.2:p.Glu2407Gln
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