Canonical Allele Identifier: CA397110472
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1328776726
gnomAD v2: 16-88799030-G-T
gnomAD v4: 16-88732622-G-T
MyVariant Identifiers: chr16:g.88799030G>T (hg19) chr16:g.88732622G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732622G>T , CM000678.2:g.88732622G>T GRCh38
NC_000016.9:g.88799030G>T , CM000678.1:g.88799030G>T GRCh37
NC_000016.8:g.87326531G>T NCBI36
NG_042229.1:g.57599C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2775C>A (PIEZO1) MANE Select ENSP00000301015.9:p.Asn925Lys
ENST00000301015.13:c.2775C>A (PIEZO1) ENSP00000301015.9:p.Asn925Lys
ENST00000490756.1:n.359C>A (PIEZO1)
NM_001142864.2:c.2775C>A (PIEZO1) NP_001136336.2:p.Asn925Lys
NM_001142864.3:c.2775C>A (PIEZO1) NP_001136336.2:p.Asn925Lys
NR_103774.1:n.269+1174G>T (HSALR1)
NM_001142864.4:c.2775C>A (PIEZO1) MANE Select NP_001136336.2:p.Asn925Lys
Search 100 bp 5'
Search 100 bp 3'