Links from Protein
Items: 1 to 20 of 282
1.
rs1488304414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67436162
(GRCh38)
11:67203633
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436161:G:A
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000006/1
(GnomAD_exomes)
- HGVS:
2.
rs1486291780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:67435942
(GRCh38)
11:67203413
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435941:A:G
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000283/8
(TOMMO)
- HGVS:
3.
rs1484218980 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67435865
(GRCh38)
11:67203336
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435864:G:A
- Gene:
- PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
- Functional Consequence:
- coding_sequence_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
4.
rs1482128539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:67436243
(GRCh38)
11:67203714
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436242:G:A,NC_000011.10:67436242:G:C
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD_exomes)
A=0.000021/3
(GnomAD)
A=0.000045/12
(TOPMED)
- HGVS:
NC_000011.10:g.67436243G>A, NC_000011.10:g.67436243G>C, NC_000011.9:g.67203714G>A, NC_000011.9:g.67203714G>C, NM_001018070.3:c.*2133C>T, NM_001018070.3:c.*2133C>G, NM_020441.3:c.*2133C>T, NM_020441.3:c.*2133C>G, NM_005608.3:c.111C>T, NM_005608.3:c.111C>G, NM_005608.2:c.111C>T, NM_005608.2:c.111C>G
5.
rs1478090421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:67436129
(GRCh38)
11:67203600
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436128:C:A
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000051/1
(
ALFA)
A=0.000005/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1469657634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:67436296
(GRCh38)
11:67203767
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436295:C:T
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000008/1
(GnomAD_exomes)
- HGVS:
8.
rs1468762906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:67436307
(GRCh38)
11:67203778
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436306:G:A,NC_000011.10:67436306:G:C
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,3_prime_UTR_variant
- Validated:
- by cluster
- HGVS:
NC_000011.10:g.67436307G>A, NC_000011.10:g.67436307G>C, NC_000011.9:g.67203778G>A, NC_000011.9:g.67203778G>C, NM_001018070.3:c.*2069C>T, NM_001018070.3:c.*2069C>G, NM_020441.3:c.*2069C>T, NM_020441.3:c.*2069C>G, NM_005608.3:c.47C>T, NM_005608.3:c.47C>G, NM_005608.2:c.47C>T, NM_005608.2:c.47C>G, NP_005599.1:p.Pro16Leu, NP_005599.1:p.Pro16Arg
9.
rs1467528625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67436317
(GRCh38)
11:67203788
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436316:G:A
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1466131705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:67436090
(GRCh38)
11:67203561
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436089:A:G
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1462484472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:67435757
(GRCh38)
11:67203228
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435756:C:G
- Gene:
- PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
- Functional Consequence:
- 500B_downstream_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1459699490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67436139
(GRCh38)
11:67203610
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436138:G:A
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
13.
rs1458886581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:67435759
(GRCh38)
11:67203230
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435758:G:A,NC_000011.10:67435758:G:C
- Gene:
- PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
- Functional Consequence:
- 500B_downstream_variant,missense_variant,downstream_transcript_variant,stop_gained,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000011.10:g.67435759G>A, NC_000011.10:g.67435759G>C, NC_000011.9:g.67203230G>A, NC_000011.9:g.67203230G>C, NM_001018070.3:c.*2617C>T, NM_001018070.3:c.*2617C>G, NM_020441.3:c.*2617C>T, NM_020441.3:c.*2617C>G, NM_005608.3:c.595C>T, NM_005608.3:c.595C>G, NM_005608.2:c.595C>T, NM_005608.2:c.595C>G, NP_005599.1:p.Gln199Ter, NP_005599.1:p.Gln199Glu
15.
rs1449487573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:67435786
(GRCh38)
11:67203257
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435785:C:T
- Gene:
- PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
- Functional Consequence:
- downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1449379579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:67435793
(GRCh38)
11:67203264
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435792:T:C
- Gene:
- PTPRCAP (Varview), RPS6KB2 (Varview), CORO1B (Varview)
- Functional Consequence:
- synonymous_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1447693734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:67436132
(GRCh38)
11:67203603
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67436131:C:T
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1443598761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:67435960
(GRCh38)
11:67203431
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435959:G:T
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- missense_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1442720997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67435930
(GRCh38)
11:67203401
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67435929:G:A
- Gene:
- PTPRCAP (Varview), CORO1B (Varview)
- Functional Consequence:
- stop_gained,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: