Canonical Allele Identifier: CA397110426
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1418236074
gnomAD v2: 16-88799016-T-G
gnomAD v4: 16-88732608-T-G
MyVariant Identifiers: chr16:g.88799016T>G (hg19) chr16:g.88732608T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732608T>G , CM000678.2:g.88732608T>G GRCh38
NC_000016.9:g.88799016T>G , CM000678.1:g.88799016T>G GRCh37
NC_000016.8:g.87326517T>G NCBI36
NG_042229.1:g.57613A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2789A>C (PIEZO1) MANE Select ENSP00000301015.9:p.Gln930Pro
ENST00000301015.13:c.2789A>C (PIEZO1) ENSP00000301015.9:p.Gln930Pro
ENST00000490756.1:n.373A>C (PIEZO1)
NM_001142864.2:c.2789A>C (PIEZO1) NP_001136336.2:p.Gln930Pro
NM_001142864.3:c.2789A>C (PIEZO1) NP_001136336.2:p.Gln930Pro
NR_103774.1:n.269+1160T>G (HSALR1)
NM_001142864.4:c.2789A>C (PIEZO1) MANE Select NP_001136336.2:p.Gln930Pro
Search 100 bp 5'
Search 100 bp 3'