Canonical Allele Identifier: CA397110441
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

dbSNP Id: rs1462695942
gnomAD v2: 16-88799020-T-A
gnomAD v4: 16-88732612-T-A
MyVariant Identifiers: chr16:g.88799020T>A (hg19) chr16:g.88732612T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88732612T>A , CM000678.2:g.88732612T>A GRCh38
NC_000016.9:g.88799020T>A , CM000678.1:g.88799020T>A GRCh37
NC_000016.8:g.87326521T>A NCBI36
NG_042229.1:g.57609A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2785A>T (PIEZO1) MANE Select ENSP00000301015.9:p.Ile929Phe
ENST00000301015.13:c.2785A>T (PIEZO1) ENSP00000301015.9:p.Ile929Phe
ENST00000490756.1:n.369A>T (PIEZO1)
NM_001142864.2:c.2785A>T (PIEZO1) NP_001136336.2:p.Ile929Phe
NM_001142864.3:c.2785A>T (PIEZO1) NP_001136336.2:p.Ile929Phe
NR_103774.1:n.269+1164T>A (HSALR1)
NM_001142864.4:c.2785A>T (PIEZO1) MANE Select NP_001136336.2:p.Ile929Phe
Search 100 bp 5'
Search 100 bp 3'