Canonical Allele Identifier: CA397110572
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1162799
ClinVar RCV Id: RCV001507360
dbSNP Id: rs1252632829
gnomAD v4: 16-88732652-G-C
MyVariant Identifiers: chr16:g.88799060G>C (hg19) chr16:g.88732652G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732652G>C , CM000678.2:g.88732652G>C GRCh38
NC_000016.9:g.88799060G>C , CM000678.1:g.88799060G>C GRCh37
NC_000016.8:g.87326561G>C NCBI36
NG_042229.1:g.57569C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2745C>G (PIEZO1) MANE Select ENSP00000301015.9:p.Asn915Lys
ENST00000301015.13:c.2745C>G (PIEZO1) ENSP00000301015.9:p.Asn915Lys
ENST00000490756.1:n.329C>G (PIEZO1)
NM_001142864.2:c.2745C>G (PIEZO1) NP_001136336.2:p.Asn915Lys
NM_001142864.3:c.2745C>G (PIEZO1) NP_001136336.2:p.Asn915Lys
NR_103774.1:n.269+1204G>C (HSALR1)
NM_001142864.4:c.2745C>G (PIEZO1) MANE Select NP_001136336.2:p.Asn915Lys
Search 100 bp 5'
Search 100 bp 3'