Canonical Allele Identifier: CA497364053
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1912291386
MyVariant Identifiers: chr16:g.88786102C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719694C>T , CM000678.2:g.88719694C>T GRCh38
NC_000016.9:g.88786102C>T , CM000678.1:g.88786102C>T GRCh37
NC_000016.8:g.87313603C>T NCBI36
NG_042229.1:g.70527G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6351G>A MANE Select ENSP00000301015.9:p.Glu2117=
ENST00000466823.3:c.377G>A
ENST00000301015.13:c.6351G>A ENSP00000301015.9:p.Glu2117=
ENST00000419505.5:c.117G>A ENSP00000406358.1:p.Glu39=
ENST00000466823.2:c.377G>A
ENST00000495568.7:n.592G>A
ENST00000497793.2:n.506G>A
NM_001142864.2:c.6351G>A NP_001136336.2:p.Glu2117=
NM_001142864.3:c.6351G>A NP_001136336.2:p.Glu2117=
NM_001142864.4:c.6351G>A MANE Select NP_001136336.2:p.Glu2117=