Canonical Allele Identifier: CA397083251

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719665-G-T
• MyVariant Identifiers: chr16:g.88786073G>T (hg19) ; chr16:g.88719665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719665G>T , CM000678.2:g.88719665G>T	GRCh38
NC_000016.9:g.88786073G>T , CM000678.1:g.88786073G>T	GRCh37
NC_000016.8:g.87313574G>T	NCBI36
NG_042229.1:g.70556C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.6380C>A MANE Select	ENSP00000301015.9:p.Thr2127Lys
ENST00000466823.3:c.406C>A
ENST00000301015.13:c.6380C>A	ENSP00000301015.9:p.Thr2127Lys
ENST00000419505.5:c.146C>A	ENSP00000406358.1:p.Thr49Lys
ENST00000466823.2:c.406C>A
ENST00000495568.7:n.621C>A
ENST00000497793.2:n.535C>A
NM_001142864.2:c.6380C>A	NP_001136336.2:p.Thr2127Lys
NM_001142864.3:c.6380C>A	NP_001136336.2:p.Thr2127Lys
NM_001142864.4:c.6380C>A MANE Select	NP_001136336.2:p.Thr2127Lys