Canonical Allele Identifier: CA397083359
Gene: PIEZO1 HGNC NCBI

Linked Data

dbSNP Id: rs1324408406

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719679C>G , CM000678.2:g.88719679C>G GRCh38
NC_000016.9:g.88786087C>G , CM000678.1:g.88786087C>G GRCh37
NC_000016.8:g.87313588C>G NCBI36
NG_042229.1:g.70542G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6366G>C MANE Select ENSP00000301015.9:p.Met2122Ile
ENST00000466823.3:c.392G>C
ENST00000301015.13:c.6366G>C ENSP00000301015.9:p.Met2122Ile
ENST00000419505.5:c.132G>C ENSP00000406358.1:p.Met44Ile
ENST00000466823.2:c.392G>C
ENST00000495568.7:n.607G>C
ENST00000497793.2:n.521G>C
NM_001142864.2:c.6366G>C NP_001136336.2:p.Met2122Ile
NM_001142864.3:c.6366G>C NP_001136336.2:p.Met2122Ile
NM_001142864.4:c.6366G>C MANE Select NP_001136336.2:p.Met2122Ile