Canonical Allele Identifier: CA2241261246
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732642C= , CM000678.2:g.88732642C= GRCh38
NC_000016.9:g.88799050C= , CM000678.1:g.88799050C= GRCh37
NC_000016.8:g.87326551C= NCBI36
NG_042229.1:g.57579G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2755G= (PIEZO1) MANE Select ENSP00000301015.9:p.Val919=
ENST00000301015.13:c.2755G= (PIEZO1) ENSP00000301015.9:p.Val919=
ENST00000490756.1:n.339G= (PIEZO1)
NM_001142864.2:c.2755G= (PIEZO1) NP_001136336.2:p.Val919=
NM_001142864.3:c.2755G= (PIEZO1) NP_001136336.2:p.Val919=
NR_103774.1:n.269+1194C= (HSALR1)
NM_001142864.4:c.2755G= (PIEZO1) MANE Select NP_001136336.2:p.Val919=