additional sex combs like 1 (Drosophila) [Source:HGNC Symbol;Acc:18318]
20
30946155
31027122
1
q11.21
30946155
31027122
ASXL1
ASXL1-001
HGNC Symbol
HGNC transcript name
9
42.17
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
171023
18318
ASXL1
NM_015338
27522
MSeqDR Master Exome Data Set M1: 219 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
20
30946297
C
T
ENST00000375687
ENSG00000171456
30946155
31027122
ENSP00000364839
ASXL1
1
ASXL1_HUMAN
-
-
5'_UTR
NA
-
-
lod=129:489
-
-
-
het
5
2
20
30946297
C
T
ENST00000542461
ENSG00000171456
30946155
31027122
ENSP00000438654
ASXL1
1
-
-
-
5'_UTR
NA
-
-
lod=129:489
-
-
-
het
5
3
20
30946482
C
T
ENST00000375687
ENSG00000171456
30946155
31027122
ENSP00000364839
ASXL1
1
ASXL1_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
4
20
30946482
C
T
ENST00000542461
ENSG00000171456
30946155
31027122
ENSP00000438654
ASXL1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
5
20
30946485
C
G
ENST00000375687
ENSG00000171456
30946155
31027122
ENSP00000364839
ASXL1
1
ASXL1_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
6
20
30946485
C
G
ENST00000542461
ENSG00000171456
30946155
31027122
ENSP00000438654
ASXL1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
7
20
30947869
C
-A
ENST00000555343
ENSG00000171456
30946155
31027122
-
ASXL1
1
-
c.51_51del
p.A17NA
non-syn
rs11315373
-
-
-
-
-
-
het
6
8
20
30954250
G
+AA
ENST00000306058
ENSG00000171456
30946155
31027122
ENSP00000305119
ASXL1
1
-
c.109_110insAA
p.E37NA
non-syn
NA
-
-
lod=342:593
-
-
-
het
2
9
20
30954250
G
+AA
ENST00000375687
ENSG00000171456
30946155
31027122
ENSP00000364839
ASXL1
1
ASXL1_HUMAN
c.121_122insAA
p.E41NA
non-syn
NA
-
-
lod=342:593
-
-
-
het
2
10
20
30954250
G
+AA
ENST00000375689
ENSG00000171456
30946155
31027122
ENSP00000364841
ASXL1
1
-
c.109_110insAA
p.E37NA
non-syn
NA
-
-
lod=342:593
-
-
-
het
2
11
20
30954250
G
+AA
ENST00000470145
ENSG00000171456
30946155
31027122
-
ASXL1
1
-
c.64_65insAA
p.E22NA
non-syn
NA
-
-
lod=342:593
-
-
-
het
2
12
20
30954250
G
+AA
ENST00000497249
ENSG00000171456
30946155
31027122
ENSP00000451216
ASXL1
1
-
c.86_87insAA
p.R29NA
non-syn
NA
-
-
lod=342:593
-
-
-
het
2
13
20
30954250
G
+AA
ENST00000542461
ENSG00000171456
30946155
31027122
ENSP00000438654
ASXL1
1
-
c.121_122insAA
p.E41NA
non-syn
NA
-
-
lod=342:593
-
-
-
het
2
14
20
30954250
G
+AA
ENST00000555343
ENSG00000171456
30946155
31027122
-
ASXL1
1
-
c.731_732insAA
p.R244NA
non-syn
NA
-
-
lod=342:593
-
-
-
het
2
15
20
30954276
A
T
ENST00000306058
ENSG00000171456
30946155
31027122
ENSP00000305119
ASXL1
1
-
-
-
+7bp 5'_splice_site
NA
-
-
lod=342:593
-
-
-
het
1
16
20
30954276
A
T
ENST00000375687
ENSG00000171456
30946155
31027122
ENSP00000364839
ASXL1
1
ASXL1_HUMAN
-
-
+7bp 5'_splice_site
NA
-
-
lod=342:593
-
-
-
het
1
17
20
30954276
A
T
ENST00000375689
ENSG00000171456
30946155
31027122
ENSP00000364841
ASXL1
1
-
-
-
+7bp 5'_splice_site
NA
-
-
lod=342:593
-
-
-
het
1
18
20
30954276
A
T
ENST00000470145
ENSG00000171456
30946155
31027122
-
ASXL1
1
-
-
-
+7bp 5'_splice_site
NA
-
-
lod=342:593
-
-
-
het
1
19
20
30954276
A
T
ENST00000497249
ENSG00000171456
30946155
31027122
ENSP00000451216
ASXL1
1
-
-
-
+7bp 5'_splice_site
NA
-
-
lod=342:593
-
-
-
het
1
20
20
30954276
A
T
ENST00000542461
ENSG00000171456
30946155
31027122
ENSP00000438654
ASXL1
1
-
-
-
+7bp 5'_splice_site
NA
-
-
lod=342:593
-
-
-
het
1
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