Canonical Allele Identifier: CA2241255326
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88738169G= , CM000678.2:g.88738169G= GRCh38
NC_000016.9:g.88804577G= , CM000678.1:g.88804577G= GRCh37
NC_000016.8:g.87332078G= NCBI36
NG_042229.1:g.52052C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.848+58C= (PIEZO1) MANE Select ENSP00000301015.9:n.848+58C=
ENST00000301015.13:c.848+58C= (PIEZO1) ENSP00000301015.9:n.848+58C=
NM_001142864.2:c.848+58C= (PIEZO1) NP_001136336.2:n.848+58C=
NM_001142864.3:c.848+58C= (PIEZO1) NP_001136336.2:n.848+58C=
NR_103774.1:n.618G= (HSALR1)
NM_001142864.4:c.848+58C= (PIEZO1) MANE Select NP_001136336.2:n.848+58C=