SNP Links for Protein (Select 570359542) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:20674522 (GRCh38)
11:20696068 (GRCh37)
Canonical SPDI:: NC_000011.10:20674521:T:C
Gene:: NELL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.20674522T>C, NC_000011.9:g.20696068T>C, NG_047064.1:g.9972T>C, NM_001288713.1:c.89T>C, NP_001275642.1:p.Ile30Thr

Select item 14831903397.

rs1483190339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:20783735 (GRCh38)
11:20805281 (GRCh37)
Canonical SPDI:: NC_000011.10:20783734:G:T
Gene:: NELL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.20783735G>T, NC_000011.9:g.20805281G>T, NG_047064.1:g.119185G>T, NM_006157.5:c.240G>T, NM_006157.4:c.240G>T, NM_006157.3:c.240G>T, NM_201551.2:c.240G>T, NM_201551.1:c.240G>T, NM_001288713.1:c.324G>T, NM_001288714.1:c.240G>T

Select item 14827279468.

rs1482727946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:20928380 (GRCh38)
11:20949926 (GRCh37)
Canonical SPDI:: NC_000011.10:20928379:G:T
Gene:: NELL1 (Varview), LOC105376585 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.20928380G>T, NC_000011.9:g.20949926G>T, NG_047064.1:g.263830G>T, NM_006157.5:c.898G>T, NM_006157.4:c.898G>T, NM_006157.3:c.898G>T, NM_201551.2:c.898G>T, NM_201551.1:c.898G>T, NM_001288713.1:c.982G>T, NM_001288714.1:c.727G>T, NP_006148.2:p.Gly300Cys, NP_963845.1:p.Gly300Cys, NP_001275642.1:p.Gly328Cys, NP_001275643.1:p.Gly243Cys

Select item 14822095979.

rs1482209597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:20928408 (GRCh38)
11:20949954 (GRCh37)
Canonical SPDI:: NC_000011.10:20928407:G:A
Gene:: NELL1 (Varview), LOC105376585 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.20928408G>A, NC_000011.9:g.20949954G>A, NG_047064.1:g.263858G>A, NM_006157.5:c.926G>A, NM_006157.4:c.926G>A, NM_006157.3:c.926G>A, NM_201551.2:c.926G>A, NM_201551.1:c.926G>A, NM_001288713.1:c.1010G>A, NM_001288714.1:c.755G>A, NP_006148.2:p.Cys309Tyr, NP_963845.1:p.Cys309Tyr, NP_001275642.1:p.Cys337Tyr, NP_001275643.1:p.Cys252Tyr

Select item 148176340510.

rs1481763405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:20847629 (GRCh38)
11:20869175 (GRCh37)
Canonical SPDI:: NC_000011.10:20847628:C:T
Gene:: NELL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20847629C>T, NC_000011.9:g.20869175C>T, NG_047064.1:g.183079C>T, NM_006157.5:c.382C>T, NM_006157.4:c.382C>T, NM_006157.3:c.382C>T, NM_201551.2:c.382C>T, NM_201551.1:c.382C>T, NM_001288713.1:c.466C>T, NP_006148.2:p.His128Tyr, NP_963845.1:p.His128Tyr, NP_001275642.1:p.His156Tyr

Select item 147588506311.

rs1475885063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:20919284 (GRCh38)
11:20940830 (GRCh37)
Canonical SPDI:: NC_000011.10:20919283:G:A
Gene:: NELL1 (Varview), LOC105376585 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.20919284G>A, NC_000011.9:g.20940830G>A, NG_047064.1:g.254734G>A, NM_006157.5:c.709G>A, NM_006157.4:c.709G>A, NM_006157.3:c.709G>A, NM_201551.2:c.709G>A, NM_201551.1:c.709G>A, NM_001288713.1:c.793G>A, NM_001288714.1:c.538G>A, NP_006148.2:p.Val237Met, NP_963845.1:p.Val237Met, NP_001275642.1:p.Val265Met, NP_001275643.1:p.Val180Met

Select item 147509364012.

rs1475093640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:21573345 (GRCh38)
11:21594891 (GRCh37)
Canonical SPDI:: NC_000011.10:21573344:T:G
Gene:: NELL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.21573345T>G, NC_000011.9:g.21594891T>G, NG_047064.1:g.908795T>G, NM_006157.5:c.2318T>G, NM_006157.4:c.2318T>G, NM_006157.3:c.2318T>G, NM_201551.2:c.2177T>G, NM_201551.1:c.2177T>G, NM_001288713.1:c.2402T>G, NM_001288714.1:c.2147T>G, NP_006148.2:p.Val773Gly, NP_963845.1:p.Val726Gly, NP_001275642.1:p.Val801Gly, NP_001275643.1:p.Val716Gly

Select item 147274279513.

rs1472742795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:20674531 (GRCh38)
11:20696077 (GRCh37)
Canonical SPDI:: NC_000011.10:20674530:C:G
Gene:: NELL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20674531C>G, NC_000011.9:g.20696077C>G, NG_047064.1:g.9981C>G, NM_001288713.1:c.98C>G, NP_001275642.1:p.Thr33Ser

Select item 147253627614.

rs1472536276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:20919326 (GRCh38)
11:20940872 (GRCh37)
Canonical SPDI:: NC_000011.10:20919325:A:G
Gene:: NELL1 (Varview), LOC105376585 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.20919326A>G, NC_000011.9:g.20940872A>G, NG_047064.1:g.254776A>G, NM_006157.5:c.751A>G, NM_006157.4:c.751A>G, NM_006157.3:c.751A>G, NM_201551.2:c.751A>G, NM_201551.1:c.751A>G, NM_001288713.1:c.835A>G, NM_001288714.1:c.580A>G, NP_006148.2:p.Thr251Ala, NP_963845.1:p.Thr251Ala, NP_001275642.1:p.Thr279Ala, NP_001275643.1:p.Thr194Ala

Select item 147243235515.

rs1472432355 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:20678001 (GRCh38)
11:20699547 (GRCh37)
Canonical SPDI:: NC_000011.10:20678000:CCC:CC
Gene:: NELL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.20678003del, NC_000011.9:g.20699549del, NG_047064.1:g.13453del, NM_006157.5:c.127del, NM_006157.4:c.127del, NM_006157.3:c.127del, NM_201551.2:c.127del, NM_201551.1:c.127del, NM_001288713.1:c.211del, NM_001288714.1:c.127del, NP_006148.2:p.Gly44fs, NP_963845.1:p.Gly44fs, NP_001275642.1:p.Gly72fs, NP_001275643.1:p.Gly44fs

Select item 147235424716.

rs1472354247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:21573257 (GRCh38)
11:21594803 (GRCh37)
Canonical SPDI:: NC_000011.10:21573256:G:A
Gene:: NELL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.21573257G>A, NC_000011.9:g.21594803G>A, NG_047064.1:g.908707G>A, NM_006157.5:c.2230G>A, NM_006157.4:c.2230G>A, NM_006157.3:c.2230G>A, NM_201551.2:c.2089G>A, NM_201551.1:c.2089G>A, NM_001288713.1:c.2314G>A, NM_001288714.1:c.2059G>A, NP_006148.2:p.Glu744Lys, NP_963845.1:p.Glu697Lys, NP_001275642.1:p.Glu772Lys, NP_001275643.1:p.Glu687Lys

Select item 147222457017.

rs1472224570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:20678040 (GRCh38)
11:20699586 (GRCh37)
Canonical SPDI:: NC_000011.10:20678039:G:A
Gene:: NELL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.20678040G>A, NC_000011.9:g.20699586G>A, NG_047064.1:g.13490G>A, NM_006157.5:c.164G>A, NM_006157.4:c.164G>A, NM_006157.3:c.164G>A, NM_201551.2:c.164G>A, NM_201551.1:c.164G>A, NM_001288713.1:c.248G>A, NM_001288714.1:c.164G>A, NP_006148.2:p.Ser55Asn, NP_963845.1:p.Ser55Asn, NP_001275642.1:p.Ser83Asn, NP_001275643.1:p.Ser55Asn

Select item 147110212718.

rs1471102127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:21570870 (GRCh38)
11:21592416 (GRCh37)
Canonical SPDI:: NC_000011.10:21570869:A:C
Gene:: NELL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.21570870A>C, NC_000011.9:g.21592416A>C, NG_047064.1:g.906320A>C, NM_006157.5:c.2087A>C, NM_006157.4:c.2087A>C, NM_006157.3:c.2087A>C, NM_201551.2:c.1946A>C, NM_201551.1:c.1946A>C, NM_001288713.1:c.2171A>C, NM_001288714.1:c.1916A>C, NP_006148.2:p.Asp696Ala, NP_963845.1:p.Asp649Ala, NP_001275642.1:p.Asp724Ala, NP_001275643.1:p.Asp639Ala

Select item 147014951219.

rs1470149512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:21370867 (GRCh38)
11:21392413 (GRCh37)
Canonical SPDI:: NC_000011.10:21370866:G:A
Gene:: NELL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.21370867G>A, NC_000011.9:g.21392413G>A, NG_047064.1:g.706317G>A, NM_006157.5:c.1564G>A, NM_006157.4:c.1564G>A, NM_006157.3:c.1564G>A, NM_201551.2:c.1564G>A, NM_201551.1:c.1564G>A, NM_001288713.1:c.1648G>A, NM_001288714.1:c.1393G>A, NP_006148.2:p.Gly522Ser, NP_963845.1:p.Gly522Ser, NP_001275642.1:p.Gly550Ser, NP_001275643.1:p.Gly465Ser

Select item 146934341120.

rs1469343411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:20678014 (GRCh38)
11:20699560 (GRCh37)
Canonical SPDI:: NC_000011.10:20678013:T:C
Gene:: NELL1 (Varview)
Functional Consequence:: synonymous_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)
HGVS:: NC_000011.10:g.20678014T>C, NC_000011.9:g.20699560T>C, NG_047064.1:g.13464T>C, NM_006157.5:c.138T>C, NM_006157.4:c.138T>C, NM_006157.3:c.138T>C, NM_201551.2:c.138T>C, NM_201551.1:c.138T>C, NM_001288713.1:c.222T>C, NM_001288714.1:c.138T>C

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