piezo-type mechanosensitive ion channel component 1 [Source:HGNC Symbol;Acc:28993]
16
88781751
88851619
-1
q24.3
88781751
88782685
PIEZO1
PIEZO1-015
HGNC Symbol
HGNC transcript name
15
61.99
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
PUTATIVE
9780
28993
PIEZO1
27514
MSeqDR Master Exome Data Set M1: 790 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
16
88781759
T
G
ENST00000301015
ENSG00000103335
88781751
88851619
ENSP00000301015
PIEZO1
-1
PIEZ1_HUMAN
-
-
3'_UTR
NA
-
-
lod=48:383
-
-
-
het
1
2
16
88781759
T
G
ENST00000327397
ENSG00000103335
88781751
88851619
ENSP00000333704
PIEZO1
-1
-
-
-
3'_UTR
NA
-
-
lod=48:383
-
-
-
het
1
3
16
88781759
T
G
ENST00000419505
ENSG00000103335
88781751
88851619
ENSP00000406358
PIEZO1
-1
-
-
-
3'_UTR
NA
-
-
lod=48:383
-
-
-
het
1
4
16
88781759
T
G
ENST00000484567
ENSG00000103335
88781751
88851619
-
PIEZO1
-1
-
c.2456A>C
p.K819T
non-syn
NA
-
-
lod=48:383
-
-
-
het
1
5
16
88781759
T
G
ENST00000518793
ENSG00000103335
88781751
88851619
ENSP00000456680
PIEZO1
-1
-
-
-
3'_UTR
NA
-
-
lod=48:383
-
-
-
het
1
6
16
88781791
A
C
ENST00000301015
ENSG00000103335
88781751
88851619
ENSP00000301015
PIEZO1
-1
PIEZ1_HUMAN
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
het
96
7
16
88781791
A
C
ENST00000301015
ENSG00000103335
88781751
88851619
ENSP00000301015
PIEZO1
-1
PIEZ1_HUMAN
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
hom
13
8
16
88781791
A
C
ENST00000327397
ENSG00000103335
88781751
88851619
ENSP00000333704
PIEZO1
-1
-
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
het
96
9
16
88781791
A
C
ENST00000327397
ENSG00000103335
88781751
88851619
ENSP00000333704
PIEZO1
-1
-
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
hom
13
10
16
88781791
A
C
ENST00000419505
ENSG00000103335
88781751
88851619
ENSP00000406358
PIEZO1
-1
-
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
het
96
11
16
88781791
A
C
ENST00000419505
ENSG00000103335
88781751
88851619
ENSP00000406358
PIEZO1
-1
-
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
hom
13
12
16
88781791
A
C
ENST00000484567
ENSG00000103335
88781751
88851619
-
PIEZO1
-1
-
c.2424T>G
p.F808L
non-syn
rs1061247
0.122
-
lod=51:389
-
-
-
het
96
13
16
88781791
A
C
ENST00000484567
ENSG00000103335
88781751
88851619
-
PIEZO1
-1
-
c.2424T>G
p.F808L
non-syn
rs1061247
0.122
-
lod=51:389
-
-
-
hom
13
14
16
88781791
A
C
ENST00000518793
ENSG00000103335
88781751
88851619
ENSP00000456680
PIEZO1
-1
-
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
het
96
15
16
88781791
A
C
ENST00000518793
ENSG00000103335
88781751
88851619
ENSP00000456680
PIEZO1
-1
-
-
-
3'_UTR
rs1061247
0.122
-
lod=51:389
-
-
-
hom
13
16
16
88781797
C
-TACAG
ENST00000301015
ENSG00000103335
88781751
88851619
ENSP00000301015
PIEZO1
-1
PIEZ1_HUMAN
-
-
3'_UTR
NA
-
-
lod=51:389
-
-
-
het
1
17
16
88781797
C
-TACAG
ENST00000327397
ENSG00000103335
88781751
88851619
ENSP00000333704
PIEZO1
-1
-
-
-
3'_UTR
NA
-
-
lod=51:389
-
-
-
het
1
18
16
88781797
C
-TACAG
ENST00000419505
ENSG00000103335
88781751
88851619
ENSP00000406358
PIEZO1
-1
-
-
-
3'_UTR
NA
-
-
lod=51:389
-
-
-
het
1
19
16
88781797
C
-TACAG
ENST00000484567
ENSG00000103335
88781751
88851619
-
PIEZO1
-1
-
c.2413_2417del
p.*806NA
non-syn
NA
-
-
lod=51:389
-
-
-
het
1
20
16
88781797
C
-TACAG
ENST00000518793
ENSG00000103335
88781751
88851619
ENSP00000456680
PIEZO1
-1
-
-
-
3'_UTR
NA
-
-
lod=51:389
-
-
-
het
1
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