Canonical Allele Identifier: CA397112949
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

gnomAD v4: 16-88733990-G-T
MyVariant Identifiers: chr16:g.88800398G>T (hg19) chr16:g.88733990G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88733990G>T , CM000678.2:g.88733990G>T GRCh38
NC_000016.9:g.88800398G>T , CM000678.1:g.88800398G>T GRCh37
NC_000016.8:g.87327899G>T NCBI36
NG_042229.1:g.56231C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.2245C>A (PIEZO1) MANE Select ENSP00000301015.9:p.Gln749Lys
ENST00000301015.13:c.2245C>A (PIEZO1) ENSP00000301015.9:p.Gln749Lys
NM_001142864.2:c.2245C>A (PIEZO1) NP_001136336.2:p.Gln749Lys
NM_001142864.3:c.2245C>A (PIEZO1) NP_001136336.2:p.Gln749Lys
NR_103774.1:n.269+2542G>T (HSALR1)
NM_001142864.4:c.2245C>A (PIEZO1) MANE Select NP_001136336.2:p.Gln749Lys
Search 100 bp 5'
Search 100 bp 3'