Canonical Allele Identifier: CA497075825
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs749813208
MyVariant Identifiers: chr16:g.88785977G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719569G>C , CM000678.2:g.88719569G>C GRCh38
NC_000016.9:g.88785977G>C , CM000678.1:g.88785977G>C GRCh37
NC_000016.8:g.87313478G>C NCBI36
NG_042229.1:g.70652C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6471+5C>G MANE Select ENSP00000301015.9:n.6471+5C>G
ENST00000466823.3:c.497+5C>G
ENST00000301015.13:c.6471+5C>G ENSP00000301015.9:n.6471+5C>G
ENST00000419505.5:c.237+5C>G ENSP00000406358.1:n.237+5C>G
ENST00000466823.2:c.497+5C>G
ENST00000495568.7:n.712+5C>G
ENST00000497793.2:n.631C>G
NM_001142864.2:c.6471+5C>G NP_001136336.2:n.6471+5C>G
NM_001142864.3:c.6471+5C>G NP_001136336.2:n.6471+5C>G
NM_001142864.4:c.6471+5C>G MANE Select NP_001136336.2:n.6471+5C>G