Canonical Allele Identifier: CA397085182
Gene: PIEZO1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88720078A>C , CM000678.2:g.88720078A>C GRCh38
NC_000016.9:g.88786486A>C , CM000678.1:g.88786486A>C GRCh37
NC_000016.8:g.87313987A>C NCBI36
NG_042229.1:g.70143T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.6155T>G MANE Select ENSP00000301015.9:p.Val2052Gly
ENST00000466823.3:c.181T>G
ENST00000301015.13:c.6155T>G ENSP00000301015.9:p.Val2052Gly
ENST00000466823.2:c.181T>G
ENST00000495568.7:n.396T>G
ENST00000497793.2:n.310T>G
NM_001142864.2:c.6155T>G NP_001136336.2:p.Val2052Gly
NM_001142864.3:c.6155T>G NP_001136336.2:p.Val2052Gly
NM_001142864.4:c.6155T>G MANE Select NP_001136336.2:p.Val2052Gly