Canonical Allele Identifier: CA397082218

Gene: PIEZO1

Linked Data

• MyVariant Identifiers: chr16:g.88785983T>A (hg19) ; chr16:g.88719575T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6470A>T MANE Select	ENSP00000301015.9:p.Lys2157Met
ENST00000466823.3:c.496A>T
ENST00000301015.13:c.6470A>T	ENSP00000301015.9:p.Lys2157Met
ENST00000419505.5:c.236A>T	ENSP00000406358.1:p.Lys79Met
ENST00000466823.2:c.496A>T
ENST00000495568.7:n.711A>T
ENST00000497793.2:n.625A>T
NM_001142864.2:c.6470A>T	NP_001136336.2:p.Lys2157Met
NM_001142864.3:c.6470A>T	NP_001136336.2:p.Lys2157Met
NM_001142864.4:c.6470A>T MANE Select	NP_001136336.2:p.Lys2157Met