Canonical Allele Identifier: CA397109824
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1433044191
gnomAD v2: 16-88798828-C-T
gnomAD v4: 16-88732420-C-T
MyVariant Identifiers: chr16:g.88798828C>T (hg19) chr16:g.88732420C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732420C>T , CM000678.2:g.88732420C>T GRCh38
NC_000016.9:g.88798828C>T , CM000678.1:g.88798828C>T GRCh37
NC_000016.8:g.87326329C>T NCBI36
NG_042229.1:g.57801G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2906G>A (PIEZO1) MANE Select ENSP00000301015.9:p.Ser969Asn
ENST00000301015.13:c.2906G>A (PIEZO1) ENSP00000301015.9:p.Ser969Asn
NM_001142864.2:c.2906G>A (PIEZO1) NP_001136336.2:p.Ser969Asn
NM_001142864.3:c.2906G>A (PIEZO1) NP_001136336.2:p.Ser969Asn
NR_103774.1:n.269+972C>T (HSALR1)
NM_001142864.4:c.2906G>A (PIEZO1) MANE Select NP_001136336.2:p.Ser969Asn
Search 100 bp 5'
Search 100 bp 3'