Canonical Allele Identifier: CA397083529
Gene: PIEZO1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719699C>A , CM000678.2:g.88719699C>A GRCh38
NC_000016.9:g.88786107C>A , CM000678.1:g.88786107C>A GRCh37
NC_000016.8:g.87313608C>A NCBI36
NG_042229.1:g.70522G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6346G>T MANE Select ENSP00000301015.9:p.Val2116Leu
ENST00000466823.3:c.372G>T
ENST00000301015.13:c.6346G>T ENSP00000301015.9:p.Val2116Leu
ENST00000419505.5:c.112G>T ENSP00000406358.1:p.Val38Leu
ENST00000466823.2:c.372G>T
ENST00000495568.7:n.587G>T
ENST00000497793.2:n.501G>T
NM_001142864.2:c.6346G>T NP_001136336.2:p.Val2116Leu
NM_001142864.3:c.6346G>T NP_001136336.2:p.Val2116Leu
NM_001142864.4:c.6346G>T MANE Select NP_001136336.2:p.Val2116Leu