Canonical Allele Identifier: CA497364034
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786090C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719682C>G , CM000678.2:g.88719682C>G GRCh38
NC_000016.9:g.88786090C>G , CM000678.1:g.88786090C>G GRCh37
NC_000016.8:g.87313591C>G NCBI36
NG_042229.1:g.70539G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6363G>C MANE Select ENSP00000301015.9:p.Val2121=
ENST00000466823.3:c.389G>C
ENST00000301015.13:c.6363G>C ENSP00000301015.9:p.Val2121=
ENST00000419505.5:c.129G>C ENSP00000406358.1:p.Val43=
ENST00000466823.2:c.389G>C
ENST00000495568.7:n.604G>C
ENST00000497793.2:n.518G>C
NM_001142864.2:c.6363G>C NP_001136336.2:p.Val2121=
NM_001142864.3:c.6363G>C NP_001136336.2:p.Val2121=
NM_001142864.4:c.6363G>C MANE Select NP_001136336.2:p.Val2121=