Canonical Allele Identifier: CA082799
Gene: PIEZO1 HGNC NCBI
HSALR1 HGNC NCBI

Linked Data

PubMed: PMID:9827909 PMID:11001917 PMID:23479567
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.[88733652C>T;88733731C>T;88734844G>C] , CM000678.2:g.[88733652C>T;88733731C>T;88734844G>C] GRCh38
NC_000016.9:g.[88800060C>T;88800139C>T;88801252G>C] , CM000678.1:g.[88800060C>T;88800139C>T;88801252G>C] GRCh37
NC_000016.8:g.[87327561C>T;87327640C>T;87328753G>C] NCBI36
NG_042229.1:g.[55377C>G;56490G>A;56569G>A]

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.[1848+31C>G;2344G>A;2423G>A] (PIEZO1) MANE Select ENSP00000301015.9:p.[Gly782Ser;Arg808Gln]
ENST00000301015.13:c.[1848+31C>G;2344G>A;2423G>A] (PIEZO1) ENSP00000301015.9:p.[Gly782Ser;Arg808Gln]
NM_001142864.2:c.[1848+31C>G;2344G>A;2423G>A] (PIEZO1) NP_001136336.2:p.[Gly782Ser;Arg808Gln]
NM_001142864.3:c.[1848+31C>G;2344G>A;2423G>A] (PIEZO1) NP_001136336.2:p.[Gly782Ser;Arg808Gln]
NR_103774.1:n.[269+2204C>T;269+2283C>T;270-2977G>C] (HSALR1)
NM_001142864.4:c.[1848+31C>G;2344G>A;2423G>A] (PIEZO1) MANE Select NP_001136336.2:p.[Gly782Ser;Arg808Gln]
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