Links from Protein
Items: 1 to 20 of 427
2.
rs1488384912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:100539508
(GRCh38)
1:101005064
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539507:C:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000033/3
(GnomAD_exomes)
- HGVS:
3.
rs1482877427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:100539299
(GRCh38)
1:101004855
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539298:C:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000005/1
(GnomAD_exomes)
- HGVS:
5.
rs1479389617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:100539557
(GRCh38)
1:101005113
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539556:C:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1477123562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:100539511
(GRCh38)
1:101005067
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539510:G:A,NC_000001.11:100539510:G:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.100539511G>A, NC_000001.11:g.100539511G>T, NC_000001.10:g.101005067G>A, NC_000001.10:g.101005067G>T, NG_053134.1:g.6340G>A, NG_053134.1:g.6340G>T, NM_022049.3:c.545G>A, NM_022049.3:c.545G>T, NM_022049.2:c.545G>A, NM_022049.2:c.545G>T, NP_071332.2:p.Arg182Gln, NP_071332.2:p.Arg182Leu
8.
rs1473516293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:100539550
(GRCh38)
1:101005106
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539549:T:C
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000024/2
(GnomAD_exomes)
- HGVS:
9.
rs1471938009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:100539950
(GRCh38)
1:101005506
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539949:G:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.00001/2
(GnomAD_exomes)
- HGVS:
10.
rs1470300783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:100539758
(GRCh38)
1:101005314
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539757:G:C
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1470245003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:100539880
(GRCh38)
1:101005436
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539879:T:C
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
13.
rs1467009755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:100540025
(GRCh38)
1:101005581
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100540024:C:A
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1465157448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:100540080
(GRCh38)
1:101005636
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100540079:C:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1465135335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:100539847
(GRCh38)
1:101005403
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539846:T:C
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1463545604 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:100539401
(GRCh38)
1:101004957
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539400:G:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1462141998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:100540083
(GRCh38)
1:101005639
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100540082:G:C
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1460569339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:100539523
(GRCh38)
1:101005079
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539522:C:A,NC_000001.11:100539522:C:T
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.100539523C>A, NC_000001.11:g.100539523C>T, NC_000001.10:g.101005079C>A, NC_000001.10:g.101005079C>T, NG_053134.1:g.6352C>A, NG_053134.1:g.6352C>T, NM_022049.3:c.557C>A, NM_022049.3:c.557C>T, NM_022049.2:c.557C>A, NM_022049.2:c.557C>T, NP_071332.2:p.Ala186Glu, NP_071332.2:p.Ala186Val
20.
rs1459168217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:100539379
(GRCh38)
1:101004935
(GRCh37)
- Canonical SPDI:
- NC_000001.11:100539378:G:A
- Gene:
- GPR88 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS: