Canonical Allele Identifier: CA497364614
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1201397460
gnomAD v2: 16-88786496-G-A
gnomAD v4: 16-88720088-G-A
MyVariant Identifiers: chr16:g.88786496G>A (hg19) chr16:g.88720088G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720088G>A , CM000678.2:g.88720088G>A GRCh38
NC_000016.9:g.88786496G>A , CM000678.1:g.88786496G>A GRCh37
NC_000016.8:g.87313997G>A NCBI36
NG_042229.1:g.70133C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6145C>T MANE Select ENSP00000301015.9:p.Leu2049=
ENST00000466823.3:c.171C>T
ENST00000301015.13:c.6145C>T ENSP00000301015.9:p.Leu2049=
ENST00000466823.2:c.171C>T
ENST00000495568.7:n.386C>T
ENST00000497793.2:n.300C>T
NM_001142864.2:c.6145C>T NP_001136336.2:p.Leu2049=
NM_001142864.3:c.6145C>T NP_001136336.2:p.Leu2049=
NM_001142864.4:c.6145C>T MANE Select NP_001136336.2:p.Leu2049=
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Search 100 bp 3'