Canonical Allele Identifier: CA8232715
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs758064343
ExAC: 16:88799047 G / A
gnomAD v2: 16-88799047-G-A
gnomAD v3: 16-88732639-G-A
gnomAD v4: 16-88732639-G-A
MyVariant Identifiers: chr16:g.88799047G>A (hg19) chr16:g.88732639G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732639G>A , CM000678.2:g.88732639G>A GRCh38
NC_000016.9:g.88799047G>A , CM000678.1:g.88799047G>A GRCh37
NC_000016.8:g.87326548G>A NCBI36
NG_042229.1:g.57582C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2758C>T (PIEZO1) MANE Select ENSP00000301015.9:p.Arg920Trp
ENST00000301015.13:c.2758C>T (PIEZO1) ENSP00000301015.9:p.Arg920Trp
ENST00000490756.1:n.342C>T (PIEZO1)
NM_001142864.2:c.2758C>T (PIEZO1) NP_001136336.2:p.Arg920Trp
NM_001142864.3:c.2758C>T (PIEZO1) NP_001136336.2:p.Arg920Trp
NR_103774.1:n.269+1191G>A (HSALR1)
NM_001142864.4:c.2758C>T (PIEZO1) MANE Select NP_001136336.2:p.Arg920Trp
Search 100 bp 5'
Search 100 bp 3'