Canonical Allele Identifier: CA497364579
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786482A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720074A>C , CM000678.2:g.88720074A>C GRCh38
NC_000016.9:g.88786482A>C , CM000678.1:g.88786482A>C GRCh37
NC_000016.8:g.87313983A>C NCBI36
NG_042229.1:g.70147T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6159T>G MANE Select ENSP00000301015.9:p.Thr2053=
ENST00000466823.3:c.185T>G
ENST00000301015.13:c.6159T>G ENSP00000301015.9:p.Thr2053=
ENST00000466823.2:c.185T>G
ENST00000495568.7:n.400T>G
ENST00000497793.2:n.314T>G
NM_001142864.2:c.6159T>G NP_001136336.2:p.Thr2053=
NM_001142864.3:c.6159T>G NP_001136336.2:p.Thr2053=
NM_001142864.4:c.6159T>G MANE Select NP_001136336.2:p.Thr2053=
Search 100 bp 5'
Search 100 bp 3'