Canonical Allele Identifier: CA8231631
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs530284456
ExAC: 16:88785985 C / G
gnomAD v2: 16-88785985-C-G
gnomAD v3: 16-88719577-C-G
gnomAD v4: 16-88719577-C-G
MyVariant Identifiers: chr16:g.88785985C>G (hg19) chr16:g.88719577C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719577C>G , CM000678.2:g.88719577C>G GRCh38
NC_000016.9:g.88785985C>G , CM000678.1:g.88785985C>G GRCh37
NC_000016.8:g.87313486C>G NCBI36
NG_042229.1:g.70644G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6468G>C MANE Select ENSP00000301015.9:p.Glu2156Asp
ENST00000466823.3:c.494G>C
ENST00000301015.13:c.6468G>C ENSP00000301015.9:p.Glu2156Asp
ENST00000419505.5:c.234G>C ENSP00000406358.1:p.Glu78Asp
ENST00000466823.2:c.494G>C
ENST00000495568.7:n.709G>C
ENST00000497793.2:n.623G>C
NM_001142864.2:c.6468G>C NP_001136336.2:p.Glu2156Asp
NM_001142864.3:c.6468G>C NP_001136336.2:p.Glu2156Asp
NM_001142864.4:c.6468G>C MANE Select NP_001136336.2:p.Glu2156Asp
Search 100 bp 5'
Search 100 bp 3'