Canonical Allele Identifier: CA8232716
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1162800
ClinVar RCV Id: RCV001507361 RCV003264047
dbSNP Id: rs543115615
ExAC: 16:88799061 T / C
gnomAD v2: 16-88799061-T-C
gnomAD v3: 16-88732653-T-C
gnomAD v4: 16-88732653-T-C
MyVariant Identifiers: chr16:g.88799061T>C (hg19) chr16:g.88732653T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732653T>C , CM000678.2:g.88732653T>C GRCh38
NC_000016.9:g.88799061T>C , CM000678.1:g.88799061T>C GRCh37
NC_000016.8:g.87326562T>C NCBI36
NG_042229.1:g.57568A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2744A>G (PIEZO1) MANE Select ENSP00000301015.9:p.Asn915Ser
ENST00000301015.13:c.2744A>G (PIEZO1) ENSP00000301015.9:p.Asn915Ser
ENST00000490756.1:n.328A>G (PIEZO1)
NM_001142864.2:c.2744A>G (PIEZO1) NP_001136336.2:p.Asn915Ser
NM_001142864.3:c.2744A>G (PIEZO1) NP_001136336.2:p.Asn915Ser
NR_103774.1:n.269+1205T>C (HSALR1)
NM_001142864.4:c.2744A>G (PIEZO1) MANE Select NP_001136336.2:p.Asn915Ser
Search 100 bp 5'
Search 100 bp 3'