Canonical Allele Identifier: CA497364595
Gene: PIEZO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88786485G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720077G>C , CM000678.2:g.88720077G>C GRCh38
NC_000016.9:g.88786485G>C , CM000678.1:g.88786485G>C GRCh37
NC_000016.8:g.87313986G>C NCBI36
NG_042229.1:g.70144C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6156C>G MANE Select ENSP00000301015.9:p.Val2052=
ENST00000466823.3:c.182C>G
ENST00000301015.13:c.6156C>G ENSP00000301015.9:p.Val2052=
ENST00000466823.2:c.182C>G
ENST00000495568.7:n.397C>G
ENST00000497793.2:n.311C>G
NM_001142864.2:c.6156C>G NP_001136336.2:p.Val2052=
NM_001142864.3:c.6156C>G NP_001136336.2:p.Val2052=
NM_001142864.4:c.6156C>G MANE Select NP_001136336.2:p.Val2052=
Search 100 bp 5'
Search 100 bp 3'