Canonical Allele Identifier: CA497364574
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1183185766
gnomAD v2: 16-88786212-C-T
gnomAD v3: 16-88719804-C-T
gnomAD v4: 16-88719804-C-T
MyVariant Identifiers: chr16:g.88786212C>T (hg19) chr16:g.88719804C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719804C>T , CM000678.2:g.88719804C>T GRCh38
NC_000016.9:g.88786212C>T , CM000678.1:g.88786212C>T GRCh37
NC_000016.8:g.87313713C>T NCBI36
NG_042229.1:g.70417G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6321G>A MANE Select ENSP00000301015.9:p.Gln2107=
ENST00000466823.3:c.347G>A
ENST00000301015.13:c.6321G>A ENSP00000301015.9:p.Gln2107=
ENST00000419505.5:c.87G>A ENSP00000406358.1:p.Gln29=
ENST00000466823.2:c.347G>A
ENST00000495568.7:n.562G>A
ENST00000497793.2:n.476G>A
NM_001142864.2:c.6321G>A NP_001136336.2:p.Gln2107=
NM_001142864.3:c.6321G>A NP_001136336.2:p.Gln2107=
NM_001142864.4:c.6321G>A MANE Select NP_001136336.2:p.Gln2107=
Search 100 bp 5'
Search 100 bp 3'