Canonical Allele Identifier: CA2241262163
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733829G= , CM000678.2:g.88733829G= GRCh38
NC_000016.9:g.88800237G= , CM000678.1:g.88800237G= GRCh37
NC_000016.8:g.87327738G= NCBI36
NG_042229.1:g.56392C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2329+77C= (PIEZO1) MANE Select ENSP00000301015.9:n.2329+77C=
ENST00000301015.13:c.2329+77C= (PIEZO1) ENSP00000301015.9:n.2329+77C=
NM_001142864.2:c.2329+77C= (PIEZO1) NP_001136336.2:n.2329+77C=
NM_001142864.3:c.2329+77C= (PIEZO1) NP_001136336.2:n.2329+77C=
NR_103774.1:n.269+2381G= (HSALR1)
NM_001142864.4:c.2329+77C= (PIEZO1) MANE Select NP_001136336.2:n.2329+77C=