Canonical Allele Identifier: CA397082220

Gene: PIEZO1

Linked Data

• dbSNP Id: rs1184973935
• gnomAD v2: 16-88785983-T-G
• gnomAD v4: 16-88719575-T-G
• MyVariant Identifiers: chr16:g.88785983T>G (hg19) ; chr16:g.88719575T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719575T>G , CM000678.2:g.88719575T>G	GRCh38
NC_000016.9:g.88785983T>G , CM000678.1:g.88785983T>G	GRCh37
NC_000016.8:g.87313484T>G	NCBI36
NG_042229.1:g.70646A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6470A>C MANE Select	ENSP00000301015.9:p.Lys2157Thr
ENST00000466823.3:c.496A>C
ENST00000301015.13:c.6470A>C	ENSP00000301015.9:p.Lys2157Thr
ENST00000419505.5:c.236A>C	ENSP00000406358.1:p.Lys79Thr
ENST00000466823.2:c.496A>C
ENST00000495568.7:n.711A>C
ENST00000497793.2:n.625A>C
NM_001142864.2:c.6470A>C	NP_001136336.2:p.Lys2157Thr
NM_001142864.3:c.6470A>C	NP_001136336.2:p.Lys2157Thr
NM_001142864.4:c.6470A>C MANE Select	NP_001136336.2:p.Lys2157Thr