Canonical Allele Identifier: CA397082260

Gene: PIEZO1

Linked Data

• gnomAD v4: 16-88719583-C-A
• MyVariant Identifiers: chr16:g.88785991C>A (hg19) ; chr16:g.88719583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88719583C>A , CM000678.2:g.88719583C>A	GRCh38
NC_000016.9:g.88785991C>A , CM000678.1:g.88785991C>A	GRCh37
NC_000016.8:g.87313492C>A	NCBI36
NG_042229.1:g.70638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.6462G>T MANE Select	ENSP00000301015.9:p.Glu2154Asp
ENST00000466823.3:c.488G>T
ENST00000301015.13:c.6462G>T	ENSP00000301015.9:p.Glu2154Asp
ENST00000419505.5:c.228G>T	ENSP00000406358.1:p.Glu76Asp
ENST00000466823.2:c.488G>T
ENST00000495568.7:n.703G>T
ENST00000497793.2:n.617G>T
NM_001142864.2:c.6462G>T	NP_001136336.2:p.Glu2154Asp
NM_001142864.3:c.6462G>T	NP_001136336.2:p.Glu2154Asp
NM_001142864.4:c.6462G>T MANE Select	NP_001136336.2:p.Glu2154Asp