Canonical Allele Identifier: CA497367853
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

gnomAD v4: 16-88738180-G-C
MyVariant Identifiers: chr16:g.88804588G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88738180G>C , CM000678.2:g.88738180G>C GRCh38
NC_000016.9:g.88804588G>C , CM000678.1:g.88804588G>C GRCh37
NC_000016.8:g.87332089G>C NCBI36
NG_042229.1:g.52041C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.848+47C>G (PIEZO1) MANE Select ENSP00000301015.9:n.848+47C>G
ENST00000301015.13:c.848+47C>G (PIEZO1) ENSP00000301015.9:n.848+47C>G
NM_001142864.2:c.848+47C>G (PIEZO1) NP_001136336.2:n.848+47C>G
NM_001142864.3:c.848+47C>G (PIEZO1) NP_001136336.2:n.848+47C>G
NR_103774.1:n.629G>C (HSALR1)
NM_001142864.4:c.848+47C>G (PIEZO1) MANE Select NP_001136336.2:n.848+47C>G
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