SNP Links for Protein (Select 60099478) - SNP

Links from Protein

Items: 1 to 20 of 156

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Select item 14838900301.

rs1483890030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1697326 (GRCh38)
11:1718556 (GRCh37)
Canonical SPDI:: NC_000011.10:1697325:C:T
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1697326C>T, NC_000011.9:g.1718556C>T, NT_187657.1:g.171072C>T, NM_001012416.1:c.81C>T

Select item 14835166122.

rs1483516612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:1697392 (GRCh38)
11:1718622 (GRCh37)
Canonical SPDI:: NC_000011.10:1697391:C:G,NC_000011.10:1697391:C:T
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
HGVS:: NC_000011.10:g.1697392C>G, NC_000011.10:g.1697392C>T, NC_000011.9:g.1718622C>G, NC_000011.9:g.1718622C>T, NT_187657.1:g.171138C>G, NT_187657.1:g.171138C>T, NM_001012416.1:c.147C>G, NM_001012416.1:c.147C>T, NP_001012416.1:p.Ser49Arg

Select item 14716933583.

rs1471693358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1697434 (GRCh38)
11:1718664 (GRCh37)
Canonical SPDI:: NC_000011.10:1697433:T:C
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.1697434T>C, NC_000011.9:g.1718664T>C, NT_187657.1:g.171180T>C, NM_001012416.1:c.189T>C

Select item 14658572904.

rs1465857290 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:1697626 (GRCh38)
11:1718857 (GRCh37)
Canonical SPDI:: NC_000011.10:1697626:AAAA:AAAAA
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.1697630dup, NC_000011.9:g.1718860dup, NT_187657.1:g.171376dup, NM_001012416.1:c.385dup, NP_001012416.1:p.Ile129fs

Select item 14517456715.

rs1451745671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:1697270 (GRCh38)
11:1718500 (GRCh37)
Canonical SPDI:: NC_000011.10:1697269:G:T
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.1697270G>T, NC_000011.9:g.1718500G>T, NT_187657.1:g.171016G>T, NM_001012416.1:c.25G>T, NP_001012416.1:p.Gly9Cys

Select item 14477723366.

rs1447772336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1697418 (GRCh38)
11:1718648 (GRCh37)
Canonical SPDI:: NC_000011.10:1697417:G:A
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1697418G>A, NC_000011.9:g.1718648G>A, NT_187657.1:g.171164G>A, NM_001012416.1:c.173G>A, NP_001012416.1:p.Gly58Glu

Select item 14474424427.

rs1447442442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:1697627 (GRCh38)
11:1718857 (GRCh37)
Canonical SPDI:: NC_000011.10:1697626:A:C
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1697627A>C, NC_000011.9:g.1718857A>C, NT_187657.1:g.171373A>C, NM_001012416.1:c.382A>C, NP_001012416.1:p.Lys128Gln

Select item 14384868418.

rs1438486841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:1697439 (GRCh38)
11:1718669 (GRCh37)
Canonical SPDI:: NC_000011.10:1697438:G:A,NC_000011.10:1697438:G:C,NC_000011.10:1697438:G:T
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000011.10:g.1697439G>A, NC_000011.10:g.1697439G>C, NC_000011.10:g.1697439G>T, NC_000011.9:g.1718669G>A, NC_000011.9:g.1718669G>C, NC_000011.9:g.1718669G>T, NT_187657.1:g.171185G>A, NT_187657.1:g.171185G>C, NT_187657.1:g.171185G>T, NM_001012416.1:c.194G>A, NM_001012416.1:c.194G>C, NM_001012416.1:c.194G>T, NP_001012416.1:p.Gly65Asp, NP_001012416.1:p.Gly65Ala, NP_001012416.1:p.Gly65Val

Select item 14352062039.

rs1435206203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1697470 (GRCh38)
11:1718700 (GRCh37)
Canonical SPDI:: NC_000011.10:1697469:C:T
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.1697470C>T, NC_000011.9:g.1718700C>T, NT_187657.1:g.171216C>T, NM_001012416.1:c.225C>T

Select item 143010140010.

rs1430101400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1697611 (GRCh38)
11:1718841 (GRCh37)
Canonical SPDI:: NC_000011.10:1697610:C:T
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1697611C>T, NC_000011.9:g.1718841C>T, NT_187657.1:g.171357C>T, NM_001012416.1:c.366C>T

Select item 142377047411.

rs1423770474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1697319 (GRCh38)
11:1718549 (GRCh37)
Canonical SPDI:: NC_000011.10:1697318:G:A
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.1697319G>A, NC_000011.9:g.1718549G>A, NT_187657.1:g.171065G>A, NM_001012416.1:c.74G>A, NP_001012416.1:p.Gly25Glu

Select item 138958202212.

rs1389582022 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGCTGCTGTGTGCCAGCC>- [Show Flanks]
Chromosome:: 11:1697357 (GRCh38)
11:1718587 (GRCh37)
Canonical SPDI:: NC_000011.10:1697354:CCGTGTGCTGCTGTGTGCCAGCC:CC
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.1697357_1697377del, NC_000011.9:g.1718587_1718607del, NT_187657.1:g.171103_171123del, NM_001012416.1:c.112_132del, NP_001012416.1:p.Val38_Ala44del

Select item 138935769513.

rs1389357695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:1697605 (GRCh38)
11:1718835 (GRCh37)
Canonical SPDI:: NC_000011.10:1697604:T:G
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000068/3 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.1697605T>G, NC_000011.9:g.1718835T>G, NT_187657.1:g.171351T>G, NM_001012416.1:c.360T>G, NP_001012416.1:p.Cys120Trp

Select item 138824039914.

rs1388240399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1697493 (GRCh38)
11:1718723 (GRCh37)
Canonical SPDI:: NC_000011.10:1697492:G:A
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1697493G>A, NC_000011.9:g.1718723G>A, NT_187657.1:g.171239G>A, NM_001012416.1:c.248G>A, NP_001012416.1:p.Cys83Tyr

Select item 138755742215.

rs1387557422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1697600 (GRCh38)
11:1718830 (GRCh37)
Canonical SPDI:: NC_000011.10:1697599:T:C
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1697600T>C, NC_000011.9:g.1718830T>C, NT_187657.1:g.171346T>C, NM_001012416.1:c.355T>C, NP_001012416.1:p.Cys119Arg

Select item 138214113016.

rs1382141130 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:1697433 (GRCh38)
11:1718663 (GRCh37)
Canonical SPDI:: NC_000011.10:1697432:G:
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000036/9 (GnomAD_exomes)
-=0.000038/10 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000011.10:g.1697433del, NC_000011.9:g.1718663del, NT_187657.1:g.171179del, NM_001012416.1:c.188del, NP_001012416.1:p.Cys63fs

Select item 136804910317.

rs1368049103 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1697489 (GRCh38)
11:1718719 (GRCh37)
Canonical SPDI:: NC_000011.10:1697488:T:C
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1697489T>C, NC_000011.9:g.1718719T>C, NT_187657.1:g.171235T>C, NM_001012416.1:c.244T>C, NP_001012416.1:p.Ser82Pro

Select item 135427908918.

rs1354279089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1697302 (GRCh38)
11:1718532 (GRCh37)
Canonical SPDI:: NC_000011.10:1697301:T:C
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00005/2 (ALFA)
C=0.0012/20 (TOMMO)
HGVS:: NC_000011.10:g.1697302T>C, NC_000011.9:g.1718532T>C, NT_187657.1:g.171048T>C, NM_001012416.1:c.57T>C

Select item 135047996219.

rs1350479962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1697476 (GRCh38)
11:1718706 (GRCh37)
Canonical SPDI:: NC_000011.10:1697475:G:A
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1697476G>A, NC_000011.9:g.1718706G>A, NT_187657.1:g.171222G>A, NM_001012416.1:c.231G>A

Select item 133558547520.

rs1335585475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:1697369 (GRCh38)
11:1718599 (GRCh37)
Canonical SPDI:: NC_000011.10:1697368:G:A,NC_000011.10:1697368:G:C
Gene:: KRTAP5-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.1697369G>A, NC_000011.10:g.1697369G>C, NC_000011.9:g.1718599G>A, NC_000011.9:g.1718599G>C, NT_187657.1:g.171115G>A, NT_187657.1:g.171115G>C, NM_001012416.1:c.124G>A, NM_001012416.1:c.124G>C, NP_001012416.1:p.Val42Met, NP_001012416.1:p.Val42Leu

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