Canonical Allele Identifier: CA397070745

Gene: PIEZO1

Linked Data

• MyVariant Identifiers: chr16:g.88782112C>G (hg19) ; chr16:g.88715704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88715704C>G , CM000678.2:g.88715704C>G	GRCh38
NC_000016.9:g.88782112C>G , CM000678.1:g.88782112C>G	GRCh37
NC_000016.8:g.87309613C>G	NCBI36
NG_042229.1:g.74517G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.7467G>C MANE Select	ENSP00000301015.9:p.Glu2489Asp
ENST00000484567.6:n.2526G>C
ENST00000518793.6:c.299G>C
ENST00000301015.13:c.7467G>C	ENSP00000301015.9:p.Glu2489Asp
ENST00000327397.8:c.1033G>C	ENSP00000333704.7:p.Asp345His
ENST00000419505.5:c.1274G>C	ENSP00000406358.1:n.1274G>C
ENST00000484567.5:n.2103G>C
ENST00000518793.5:c.299G>C
ENST00000521877.1:n.431G>C
NM_001142864.2:c.7467G>C	NP_001136336.2:p.Glu2489Asp
NM_001142864.3:c.7467G>C	NP_001136336.2:p.Glu2489Asp
NM_001142864.4:c.7467G>C MANE Select	NP_001136336.2:p.Glu2489Asp