Canonical Allele Identifier: CA397109554
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732378A>T , CM000678.2:g.88732378A>T GRCh38
NC_000016.9:g.88798786A>T , CM000678.1:g.88798786A>T GRCh37
NC_000016.8:g.87326287A>T NCBI36
NG_042229.1:g.57843T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2948T>A (PIEZO1) MANE Select ENSP00000301015.9:p.Leu983His
ENST00000301015.13:c.2948T>A (PIEZO1) ENSP00000301015.9:p.Leu983His
NM_001142864.2:c.2948T>A (PIEZO1) NP_001136336.2:p.Leu983His
NM_001142864.3:c.2948T>A (PIEZO1) NP_001136336.2:p.Leu983His
NR_103774.1:n.269+930A>T (HSALR1)
NM_001142864.4:c.2948T>A (PIEZO1) MANE Select NP_001136336.2:p.Leu983His