Canonical Allele Identifier: CA2241246803

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88715708C= , CM000678.2:g.88715708C=	GRCh38
NC_000016.9:g.88782116C= , CM000678.1:g.88782116C=	GRCh37
NC_000016.8:g.87309617C=	NCBI36
NG_042229.1:g.74513G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000301015.14:c.7463G= MANE Select	ENSP00000301015.9:p.Arg2488=
ENST00000484567.6:n.2522G=
ENST00000518793.6:c.295G=
ENST00000301015.13:c.7463G=	ENSP00000301015.9:p.Arg2488=
ENST00000327397.8:c.1029G=	ENSP00000333704.7:p.Ala343=
ENST00000419505.5:c.1270G=	ENSP00000406358.1:n.1270G=
ENST00000484567.5:n.2099G=
ENST00000518793.5:c.295G=
ENST00000521877.1:n.427G=
NM_001142864.2:c.7463G=	NP_001136336.2:p.Arg2488=
NM_001142864.3:c.7463G=	NP_001136336.2:p.Arg2488=
NM_001142864.4:c.7463G= MANE Select	NP_001136336.2:p.Arg2488=