Canonical Allele Identifier: CA497367832
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.88804585T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88738177T>C , CM000678.2:g.88738177T>C GRCh38
NC_000016.9:g.88804585T>C , CM000678.1:g.88804585T>C GRCh37
NC_000016.8:g.87332086T>C NCBI36
NG_042229.1:g.52044A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301015.14:c.848+50A>G (PIEZO1) MANE Select ENSP00000301015.9:n.848+50A>G
ENST00000301015.13:c.848+50A>G (PIEZO1) ENSP00000301015.9:n.848+50A>G
NM_001142864.2:c.848+50A>G (PIEZO1) NP_001136336.2:n.848+50A>G
NM_001142864.3:c.848+50A>G (PIEZO1) NP_001136336.2:n.848+50A>G
NR_103774.1:n.626T>C (HSALR1)
NM_001142864.4:c.848+50A>G (PIEZO1) MANE Select NP_001136336.2:n.848+50A>G