Canonical Allele Identifier: CA497367757
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88804575A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88738167A>G , CM000678.2:g.88738167A>G GRCh38
NC_000016.9:g.88804575A>G , CM000678.1:g.88804575A>G GRCh37
NC_000016.8:g.87332076A>G NCBI36
NG_042229.1:g.52054T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.848+60T>C (PIEZO1) MANE Select ENSP00000301015.9:n.848+60T>C
ENST00000301015.13:c.848+60T>C (PIEZO1) ENSP00000301015.9:n.848+60T>C
NM_001142864.2:c.848+60T>C (PIEZO1) NP_001136336.2:n.848+60T>C
NM_001142864.3:c.848+60T>C (PIEZO1) NP_001136336.2:n.848+60T>C
NR_103774.1:n.616A>G (HSALR1)
NM_001142864.4:c.848+60T>C (PIEZO1) MANE Select NP_001136336.2:n.848+60T>C