SNP Links for Protein (Select 119120918) - SNP

Links from Protein

Items: 1 to 20 of 583

<< First< Prev

Page of 30

Next >Last >>

Select item 14890739141.

rs1489073914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:119989982 (GRCh38)
12:120427786 (GRCh37)
Canonical SPDI:: NC_000012.12:119989981:C:A,NC_000012.12:119989981:C:G,NC_000012.12:119989981:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.119989982C>A, NC_000012.12:g.119989982C>G, NC_000012.12:g.119989982C>T, NC_000012.11:g.120427786C>A, NC_000012.11:g.120427786C>G, NC_000012.11:g.120427786C>T, XM_006719694.4:c.114C>A, XM_006719694.4:c.114C>G, XM_006719694.4:c.114C>T, XM_006719694.3:c.114C>A, XM_006719694.3:c.114C>G, XM_006719694.3:c.114C>T, XM_006719694.2:c.114C>A, XM_006719694.2:c.114C>G, XM_006719694.2:c.114C>T, XM_006719694.1:c.114C>A, XM_006719694.1:c.114C>G, XM_006719694.1:c.114C>T, XM_006719696.4:c.114C>A, XM_006719696.4:c.114C>G, XM_006719696.4:c.114C>T, XM_006719696.3:c.114C>A, XM_006719696.3:c.114C>G, XM_006719696.3:c.114C>T, XM_006719696.2:c.114C>A, XM_006719696.2:c.114C>G, XM_006719696.2:c.114C>T, XM_006719696.1:c.114C>A, XM_006719696.1:c.114C>G, XM_006719696.1:c.114C>T, XM_006719697.4:c.114C>A, XM_006719697.4:c.114C>G, XM_006719697.4:c.114C>T, XM_006719697.3:c.114C>A, XM_006719697.3:c.114C>G, XM_006719697.3:c.114C>T, XM_006719697.2:c.114C>A, XM_006719697.2:c.114C>G, XM_006719697.2:c.114C>T, XM_006719697.1:c.114C>A, XM_006719697.1:c.114C>G, XM_006719697.1:c.114C>T, XM_011538999.3:c.114C>A, XM_011538999.3:c.114C>G, XM_011538999.3:c.114C>T, XM_011538999.2:c.114C>A, XM_011538999.2:c.114C>G, XM_011538999.2:c.114C>T, XM_011538999.1:c.114C>A, XM_011538999.1:c.114C>G, XM_011538999.1:c.114C>T, NM_207311.2:c.114C>A, NM_207311.2:c.114C>G, NM_207311.2:c.114C>T, NM_001367886.1:c.114C>A, NM_001367886.1:c.114C>G, NM_001367886.1:c.114C>T, XM_047429890.1:c.114C>A, XM_047429890.1:c.114C>G, XM_047429890.1:c.114C>T, NR_147892.1:n.139C>A, NR_147892.1:n.139C>G, NR_147892.1:n.139C>T, NR_147893.1:n.139C>A, NR_147893.1:n.139C>G, NR_147893.1:n.139C>T, NR_147894.1:n.139C>A, NR_147894.1:n.139C>G, NR_147894.1:n.139C>T, XM_047429888.1:c.114C>A, XM_047429888.1:c.114C>G, XM_047429888.1:c.114C>T, XR_007063143.1:n.747C>A, XR_007063143.1:n.747C>G, XR_007063143.1:n.747C>T, XM_047429889.1:c.114C>A, XM_047429889.1:c.114C>G, XM_047429889.1:c.114C>T, XM_047429887.1:c.114C>A, XM_047429887.1:c.114C>G, XM_047429887.1:c.114C>T

Select item 14888770232.

rs1488877023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120090008 (GRCh38)
12:120527812 (GRCh37)
Canonical SPDI:: NC_000012.12:120090007:C:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120090008C>G, NC_000012.11:g.120527812C>G, XM_006719694.4:c.1653C>G, XM_006719694.3:c.1653C>G, XM_006719694.2:c.1653C>G, XM_006719694.1:c.1653C>G, XM_006719696.4:c.1509C>G, XM_006719696.3:c.1509C>G, XM_006719696.2:c.1509C>G, XM_006719696.1:c.1509C>G, XM_006719697.4:c.1290C>G, XM_006719697.3:c.1290C>G, XM_006719697.2:c.1290C>G, XM_006719697.1:c.1290C>G, XM_011538999.3:c.1653C>G, XM_011538999.2:c.1653C>G, XM_011538999.1:c.1653C>G, NM_207311.2:c.1497C>G, XM_011539000.2:c.1041C>G, XM_011539000.1:c.1041C>G, NM_001367886.1:c.1641C>G, XM_047429890.1:c.1278C>G, NR_147892.1:n.1678C>G, NR_147893.1:n.1534C>G, NR_147894.1:n.1471C>G, XM_047429891.1:c.1029C>G, XM_047429888.1:c.1641C>G, XR_007063143.1:n.2286C>G, XM_047429889.1:c.1509C>G, XM_047429887.1:c.1653C>G, XP_006719757.1:p.Asn551Lys, XP_006719759.1:p.Asn503Lys, XP_006719760.1:p.Asn430Lys, XP_011537301.1:p.Asn551Lys, NP_997194.2:p.Asn499Lys, XP_011537302.1:p.Asn347Lys, NP_001354815.1:p.Asn547Lys, XP_047285846.1:p.Asn426Lys, XP_047285847.1:p.Asn343Lys, XP_047285844.1:p.Asn547Lys, XP_047285845.1:p.Asn503Lys, XP_047285843.1:p.Asn551Lys

Select item 14887465483.

rs1488746548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119990242 (GRCh38)
12:120428046 (GRCh37)
Canonical SPDI:: NC_000012.12:119990241:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.119990242A>G, NC_000012.11:g.120428046A>G, XM_006719694.4:c.374A>G, XM_006719694.3:c.374A>G, XM_006719694.2:c.374A>G, XM_006719694.1:c.374A>G, XM_006719696.4:c.374A>G, XM_006719696.3:c.374A>G, XM_006719696.2:c.374A>G, XM_006719696.1:c.374A>G, XM_006719697.4:c.374A>G, XM_006719697.3:c.374A>G, XM_006719697.2:c.374A>G, XM_006719697.1:c.374A>G, XM_011538999.3:c.374A>G, XM_011538999.2:c.374A>G, XM_011538999.1:c.374A>G, NM_207311.2:c.374A>G, NM_001367886.1:c.374A>G, XM_047429890.1:c.374A>G, NR_147892.1:n.399A>G, NR_147893.1:n.399A>G, NR_147894.1:n.399A>G, XM_047429888.1:c.374A>G, XR_007063143.1:n.1007A>G, XM_047429889.1:c.374A>G, XM_047429887.1:c.374A>G, XP_006719757.1:p.Gln125Arg, XP_006719759.1:p.Gln125Arg, XP_006719760.1:p.Gln125Arg, XP_011537301.1:p.Gln125Arg, NP_997194.2:p.Gln125Arg, NP_001354815.1:p.Gln125Arg, XP_047285846.1:p.Gln125Arg, XP_047285844.1:p.Gln125Arg, XP_047285845.1:p.Gln125Arg, XP_047285843.1:p.Gln125Arg

Select item 14886953314.

rs1488695331 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 12:119990184 (GRCh38)
12:120427988 (GRCh37)
Canonical SPDI:: NC_000012.12:119990181:AGAAG:AG
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_deletion,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.119990184_119990186del, NC_000012.11:g.120427988_120427990del, XM_006719694.4:c.316_318del, XM_006719694.3:c.316_318del, XM_006719694.2:c.316_318del, XM_006719694.1:c.316_318del, XM_006719696.4:c.316_318del, XM_006719696.3:c.316_318del, XM_006719696.2:c.316_318del, XM_006719696.1:c.316_318del, XM_006719697.4:c.316_318del, XM_006719697.3:c.316_318del, XM_006719697.2:c.316_318del, XM_006719697.1:c.316_318del, XM_011538999.3:c.316_318del, XM_011538999.2:c.316_318del, XM_011538999.1:c.316_318del, NM_207311.2:c.316_318del, NM_001367886.1:c.316_318del, XM_047429890.1:c.316_318del, NR_147892.1:n.341_343del, NR_147893.1:n.341_343del, NR_147894.1:n.341_343del, XM_047429888.1:c.316_318del, XR_007063143.1:n.949_951del, XM_047429889.1:c.316_318del, XM_047429887.1:c.316_318del, XP_006719757.1:p.Lys106del, XP_006719759.1:p.Lys106del, XP_006719760.1:p.Lys106del, XP_011537301.1:p.Lys106del, NP_997194.2:p.Lys106del, NP_001354815.1:p.Lys106del, XP_047285846.1:p.Lys106del, XP_047285844.1:p.Lys106del, XP_047285845.1:p.Lys106del, XP_047285843.1:p.Lys106del

Select item 14886662295.

rs1488666229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:119990032 (GRCh38)
12:120427836 (GRCh37)
Canonical SPDI:: NC_000012.12:119990031:C:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000007/1 (GnomAD)
G=0.000016/2 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000564/1 (Korea1K)
HGVS:: NC_000012.12:g.119990032C>G, NC_000012.11:g.120427836C>G, XM_006719694.4:c.164C>G, XM_006719694.3:c.164C>G, XM_006719694.2:c.164C>G, XM_006719694.1:c.164C>G, XM_006719696.4:c.164C>G, XM_006719696.3:c.164C>G, XM_006719696.2:c.164C>G, XM_006719696.1:c.164C>G, XM_006719697.4:c.164C>G, XM_006719697.3:c.164C>G, XM_006719697.2:c.164C>G, XM_006719697.1:c.164C>G, XM_011538999.3:c.164C>G, XM_011538999.2:c.164C>G, XM_011538999.1:c.164C>G, NM_207311.2:c.164C>G, NM_001367886.1:c.164C>G, XM_047429890.1:c.164C>G, NR_147892.1:n.189C>G, NR_147893.1:n.189C>G, NR_147894.1:n.189C>G, XM_047429888.1:c.164C>G, XR_007063143.1:n.797C>G, XM_047429889.1:c.164C>G, XM_047429887.1:c.164C>G, XP_006719757.1:p.Ala55Gly, XP_006719759.1:p.Ala55Gly, XP_006719760.1:p.Ala55Gly, XP_011537301.1:p.Ala55Gly, NP_997194.2:p.Ala55Gly, NP_001354815.1:p.Ala55Gly, XP_047285846.1:p.Ala55Gly, XP_047285844.1:p.Ala55Gly, XP_047285845.1:p.Ala55Gly, XP_047285843.1:p.Ala55Gly

Select item 14882271786.

rs1488227178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:120061730 (GRCh38)
12:120499534 (GRCh37)
Canonical SPDI:: NC_000012.12:120061729:A:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.120061730A>T, NC_000012.11:g.120499534A>T, XM_006719694.4:c.666A>T, XM_006719694.3:c.666A>T, XM_006719694.2:c.666A>T, XM_006719694.1:c.666A>T, XM_006719696.4:c.666A>T, XM_006719696.3:c.666A>T, XM_006719696.2:c.666A>T, XM_006719696.1:c.666A>T, XM_006719697.4:c.666A>T, XM_006719697.3:c.666A>T, XM_006719697.2:c.666A>T, XM_006719697.1:c.666A>T, XM_011538999.3:c.666A>T, XM_011538999.2:c.666A>T, XM_011538999.1:c.666A>T, NM_207311.2:c.666A>T, XM_011539000.2:c.54A>T, XM_011539000.1:c.54A>T, NM_001367886.1:c.666A>T, XM_047429890.1:c.666A>T, NR_147892.1:n.691A>T, NR_147893.1:n.691A>T, NR_147894.1:n.859A>T, XM_047429891.1:c.54A>T, XM_047429888.1:c.666A>T, XR_007063143.1:n.1299A>T, XM_047429889.1:c.666A>T, XM_047429887.1:c.666A>T, XP_006719757.1:p.Gln222His, XP_006719759.1:p.Gln222His, XP_006719760.1:p.Gln222His, XP_011537301.1:p.Gln222His, NP_997194.2:p.Gln222His, XP_011537302.1:p.Gln18His, NP_001354815.1:p.Gln222His, XP_047285846.1:p.Gln222His, XP_047285847.1:p.Gln18His, XP_047285844.1:p.Gln222His, XP_047285845.1:p.Gln222His, XP_047285843.1:p.Gln222His

Select item 14870759977.

rs1487075997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:119998614 (GRCh38)
12:120436418 (GRCh37)
Canonical SPDI:: NC_000012.12:119998613:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.119998614A>G, NC_000012.11:g.120436418A>G, XM_006719694.4:c.523A>G, XM_006719694.3:c.523A>G, XM_006719694.2:c.523A>G, XM_006719694.1:c.523A>G, XM_006719696.4:c.523A>G, XM_006719696.3:c.523A>G, XM_006719696.2:c.523A>G, XM_006719696.1:c.523A>G, XM_006719697.4:c.523A>G, XM_006719697.3:c.523A>G, XM_006719697.2:c.523A>G, XM_006719697.1:c.523A>G, XM_011538999.3:c.523A>G, XM_011538999.2:c.523A>G, XM_011538999.1:c.523A>G, NM_207311.2:c.523A>G, NM_001367886.1:c.523A>G, XM_047429890.1:c.523A>G, NR_147892.1:n.548A>G, NR_147893.1:n.548A>G, NR_147894.1:n.548A>G, XM_047429888.1:c.523A>G, XR_007063143.1:n.1156A>G, XM_047429889.1:c.523A>G, XM_047429887.1:c.523A>G, XP_006719757.1:p.Lys175Glu, XP_006719759.1:p.Lys175Glu, XP_006719760.1:p.Lys175Glu, XP_011537301.1:p.Lys175Glu, NP_997194.2:p.Lys175Glu, NP_001354815.1:p.Lys175Glu, XP_047285846.1:p.Lys175Glu, XP_047285844.1:p.Lys175Glu, XP_047285845.1:p.Lys175Glu, XP_047285843.1:p.Lys175Glu

Select item 14861818338.

rs1486181833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120072685 (GRCh38)
12:120510489 (GRCh37)
Canonical SPDI:: NC_000012.12:120072684:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120072685C>T, NC_000012.11:g.120510489C>T, XM_006719694.4:c.1276C>T, XM_006719694.3:c.1276C>T, XM_006719694.2:c.1276C>T, XM_006719694.1:c.1276C>T, XM_006719696.4:c.1276C>T, XM_006719696.3:c.1276C>T, XM_006719696.2:c.1276C>T, XM_006719696.1:c.1276C>T, XM_011538999.3:c.1276C>T, XM_011538999.2:c.1276C>T, XM_011538999.1:c.1276C>T, NM_207311.2:c.1264C>T, XM_011539000.2:c.664C>T, XM_011539000.1:c.664C>T, NM_001367886.1:c.1264C>T, NR_147892.1:n.1301C>T, NR_147893.1:n.1301C>T, XM_047429891.1:c.652C>T, XM_047429888.1:c.1264C>T, XR_007063143.1:n.1909C>T, XM_047429889.1:c.1276C>T, XM_047429887.1:c.1276C>T, XP_006719757.1:p.Leu426Phe, XP_006719759.1:p.Leu426Phe, XP_011537301.1:p.Leu426Phe, NP_997194.2:p.Leu422Phe, XP_011537302.1:p.Leu222Phe, NP_001354815.1:p.Leu422Phe, XP_047285847.1:p.Leu218Phe, XP_047285844.1:p.Leu422Phe, XP_047285845.1:p.Leu426Phe, XP_047285843.1:p.Leu426Phe

Select item 14851431009.

rs1485143100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:120071670 (GRCh38)
12:120509474 (GRCh37)
Canonical SPDI:: NC_000012.12:120071669:C:A
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.120071670C>A, NC_000012.11:g.120509474C>A, XM_006719694.4:c.970C>A, XM_006719694.3:c.970C>A, XM_006719694.2:c.970C>A, XM_006719694.1:c.970C>A, XM_006719696.4:c.970C>A, XM_006719696.3:c.970C>A, XM_006719696.2:c.970C>A, XM_006719696.1:c.970C>A, XM_006719697.4:c.970C>A, XM_006719697.3:c.970C>A, XM_006719697.2:c.970C>A, XM_006719697.1:c.970C>A, XM_011538999.3:c.970C>A, XM_011538999.2:c.970C>A, XM_011538999.1:c.970C>A, NM_207311.2:c.958C>A, XM_011539000.2:c.358C>A, XM_011539000.1:c.358C>A, NM_001367886.1:c.958C>A, XM_047429890.1:c.958C>A, NR_147892.1:n.995C>A, NR_147893.1:n.995C>A, NR_147894.1:n.1151C>A, XM_047429891.1:c.346C>A, XM_047429888.1:c.958C>A, XR_007063143.1:n.1603C>A, XM_047429889.1:c.970C>A, XM_047429887.1:c.970C>A, XP_006719757.1:p.Gln324Lys, XP_006719759.1:p.Gln324Lys, XP_006719760.1:p.Gln324Lys, XP_011537301.1:p.Gln324Lys, NP_997194.2:p.Gln320Lys, XP_011537302.1:p.Gln120Lys, NP_001354815.1:p.Gln320Lys, XP_047285846.1:p.Gln320Lys, XP_047285847.1:p.Gln116Lys, XP_047285844.1:p.Gln320Lys, XP_047285845.1:p.Gln324Lys, XP_047285843.1:p.Gln324Lys

Select item 148329567410.

rs1483295674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:120093116 (GRCh38)
12:120530920 (GRCh37)
Canonical SPDI:: NC_000012.12:120093115:C:A
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120093116C>A, NC_000012.11:g.120530920C>A, XM_006719694.4:c.1833C>A, XM_006719694.3:c.1833C>A, XM_006719694.2:c.1833C>A, XM_006719694.1:c.1833C>A, XM_006719696.4:c.1689C>A, XM_006719696.3:c.1689C>A, XM_006719696.2:c.1689C>A, XM_006719696.1:c.1689C>A, XM_006719697.4:c.1470C>A, XM_006719697.3:c.1470C>A, XM_006719697.2:c.1470C>A, XM_006719697.1:c.1470C>A, NM_207311.2:c.1677C>A, XM_011539000.2:c.1221C>A, XM_011539000.1:c.1221C>A, NM_001367886.1:c.1821C>A, XM_047429890.1:c.1458C>A, NR_147892.1:n.1967C>A, NR_147893.1:n.1823C>A, NR_147894.1:n.1651C>A, XM_047429891.1:c.1209C>A, XP_006719757.1:p.Ser611Arg, XP_006719759.1:p.Ser563Arg, XP_006719760.1:p.Ser490Arg, NP_997194.2:p.Ser559Arg, XP_011537302.1:p.Ser407Arg, NP_001354815.1:p.Ser607Arg, XP_047285846.1:p.Ser486Arg, XP_047285847.1:p.Ser403Arg

Select item 148237303111.

rs1482373031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120061792 (GRCh38)
12:120499596 (GRCh37)
Canonical SPDI:: NC_000012.12:120061791:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120061792A>G, NC_000012.11:g.120499596A>G, XM_006719694.4:c.728A>G, XM_006719694.3:c.728A>G, XM_006719694.2:c.728A>G, XM_006719694.1:c.728A>G, XM_006719696.4:c.728A>G, XM_006719696.3:c.728A>G, XM_006719696.2:c.728A>G, XM_006719696.1:c.728A>G, XM_006719697.4:c.728A>G, XM_006719697.3:c.728A>G, XM_006719697.2:c.728A>G, XM_006719697.1:c.728A>G, XM_011538999.3:c.728A>G, XM_011538999.2:c.728A>G, XM_011538999.1:c.728A>G, NM_207311.2:c.728A>G, XM_011539000.2:c.116A>G, XM_011539000.1:c.116A>G, NM_001367886.1:c.728A>G, XM_047429890.1:c.728A>G, NR_147892.1:n.753A>G, NR_147893.1:n.753A>G, NR_147894.1:n.921A>G, XM_047429891.1:c.116A>G, XM_047429888.1:c.728A>G, XR_007063143.1:n.1361A>G, XM_047429889.1:c.728A>G, XM_047429887.1:c.728A>G, XP_006719757.1:p.Gln243Arg, XP_006719759.1:p.Gln243Arg, XP_006719760.1:p.Gln243Arg, XP_011537301.1:p.Gln243Arg, NP_997194.2:p.Gln243Arg, XP_011537302.1:p.Gln39Arg, NP_001354815.1:p.Gln243Arg, XP_047285846.1:p.Gln243Arg, XP_047285847.1:p.Gln39Arg, XP_047285844.1:p.Gln243Arg, XP_047285845.1:p.Gln243Arg, XP_047285843.1:p.Gln243Arg

Select item 148160814812.

rs1481608148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:119990127 (GRCh38)
12:120427931 (GRCh37)
Canonical SPDI:: NC_000012.12:119990126:G:A,NC_000012.12:119990126:G:T
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.119990127G>A, NC_000012.12:g.119990127G>T, NC_000012.11:g.120427931G>A, NC_000012.11:g.120427931G>T, XM_006719694.4:c.259G>A, XM_006719694.4:c.259G>T, XM_006719694.3:c.259G>A, XM_006719694.3:c.259G>T, XM_006719694.2:c.259G>A, XM_006719694.2:c.259G>T, XM_006719694.1:c.259G>A, XM_006719694.1:c.259G>T, XM_006719696.4:c.259G>A, XM_006719696.4:c.259G>T, XM_006719696.3:c.259G>A, XM_006719696.3:c.259G>T, XM_006719696.2:c.259G>A, XM_006719696.2:c.259G>T, XM_006719696.1:c.259G>A, XM_006719696.1:c.259G>T, XM_006719697.4:c.259G>A, XM_006719697.4:c.259G>T, XM_006719697.3:c.259G>A, XM_006719697.3:c.259G>T, XM_006719697.2:c.259G>A, XM_006719697.2:c.259G>T, XM_006719697.1:c.259G>A, XM_006719697.1:c.259G>T, XM_011538999.3:c.259G>A, XM_011538999.3:c.259G>T, XM_011538999.2:c.259G>A, XM_011538999.2:c.259G>T, XM_011538999.1:c.259G>A, XM_011538999.1:c.259G>T, NM_207311.2:c.259G>A, NM_207311.2:c.259G>T, NM_001367886.1:c.259G>A, NM_001367886.1:c.259G>T, XM_047429890.1:c.259G>A, XM_047429890.1:c.259G>T, NR_147892.1:n.284G>A, NR_147892.1:n.284G>T, NR_147893.1:n.284G>A, NR_147893.1:n.284G>T, NR_147894.1:n.284G>A, NR_147894.1:n.284G>T, XM_047429888.1:c.259G>A, XM_047429888.1:c.259G>T, XR_007063143.1:n.892G>A, XR_007063143.1:n.892G>T, XM_047429889.1:c.259G>A, XM_047429889.1:c.259G>T, XM_047429887.1:c.259G>A, XM_047429887.1:c.259G>T, XP_006719757.1:p.Ala87Thr, XP_006719757.1:p.Ala87Ser, XP_006719759.1:p.Ala87Thr, XP_006719759.1:p.Ala87Ser, XP_006719760.1:p.Ala87Thr, XP_006719760.1:p.Ala87Ser, XP_011537301.1:p.Ala87Thr, XP_011537301.1:p.Ala87Ser, NP_997194.2:p.Ala87Thr, NP_997194.2:p.Ala87Ser, NP_001354815.1:p.Ala87Thr, NP_001354815.1:p.Ala87Ser, XP_047285846.1:p.Ala87Thr, XP_047285846.1:p.Ala87Ser, XP_047285844.1:p.Ala87Thr, XP_047285844.1:p.Ala87Ser, XP_047285845.1:p.Ala87Thr, XP_047285845.1:p.Ala87Ser, XP_047285843.1:p.Ala87Thr, XP_047285843.1:p.Ala87Ser

Select item 147722440813.

rs1477224408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120072644 (GRCh38)
12:120510448 (GRCh37)
Canonical SPDI:: NC_000012.12:120072643:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120072644A>G, NC_000012.11:g.120510448A>G, XM_006719694.4:c.1235A>G, XM_006719694.3:c.1235A>G, XM_006719694.2:c.1235A>G, XM_006719694.1:c.1235A>G, XM_006719696.4:c.1235A>G, XM_006719696.3:c.1235A>G, XM_006719696.2:c.1235A>G, XM_006719696.1:c.1235A>G, XM_011538999.3:c.1235A>G, XM_011538999.2:c.1235A>G, XM_011538999.1:c.1235A>G, NM_207311.2:c.1223A>G, XM_011539000.2:c.623A>G, XM_011539000.1:c.623A>G, NM_001367886.1:c.1223A>G, NR_147892.1:n.1260A>G, NR_147893.1:n.1260A>G, XM_047429891.1:c.611A>G, XM_047429888.1:c.1223A>G, XR_007063143.1:n.1868A>G, XM_047429889.1:c.1235A>G, XM_047429887.1:c.1235A>G, XP_006719757.1:p.Lys412Arg, XP_006719759.1:p.Lys412Arg, XP_011537301.1:p.Lys412Arg, NP_997194.2:p.Lys408Arg, XP_011537302.1:p.Lys208Arg, NP_001354815.1:p.Lys408Arg, XP_047285847.1:p.Lys204Arg, XP_047285844.1:p.Lys408Arg, XP_047285845.1:p.Lys412Arg, XP_047285843.1:p.Lys412Arg

Select item 147648397214.

rs1476483972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120072603 (GRCh38)
12:120510407 (GRCh37)
Canonical SPDI:: NC_000012.12:120072602:G:A
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.120072603G>A, NC_000012.11:g.120510407G>A, XM_006719694.4:c.1194G>A, XM_006719694.3:c.1194G>A, XM_006719694.2:c.1194G>A, XM_006719694.1:c.1194G>A, XM_006719696.4:c.1194G>A, XM_006719696.3:c.1194G>A, XM_006719696.2:c.1194G>A, XM_006719696.1:c.1194G>A, XM_011538999.3:c.1194G>A, XM_011538999.2:c.1194G>A, XM_011538999.1:c.1194G>A, NM_207311.2:c.1182G>A, XM_011539000.2:c.582G>A, XM_011539000.1:c.582G>A, NM_001367886.1:c.1182G>A, NR_147892.1:n.1219G>A, NR_147893.1:n.1219G>A, XM_047429891.1:c.570G>A, XM_047429888.1:c.1182G>A, XR_007063143.1:n.1827G>A, XM_047429889.1:c.1194G>A, XM_047429887.1:c.1194G>A

Select item 147635588015.

rs1476355880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119998656 (GRCh38)
12:120436460 (GRCh37)
Canonical SPDI:: NC_000012.12:119998655:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.119998656C>T, NC_000012.11:g.120436460C>T, XM_006719694.4:c.565C>T, XM_006719694.3:c.565C>T, XM_006719694.2:c.565C>T, XM_006719694.1:c.565C>T, XM_006719696.4:c.565C>T, XM_006719696.3:c.565C>T, XM_006719696.2:c.565C>T, XM_006719696.1:c.565C>T, XM_006719697.4:c.565C>T, XM_006719697.3:c.565C>T, XM_006719697.2:c.565C>T, XM_006719697.1:c.565C>T, XM_011538999.3:c.565C>T, XM_011538999.2:c.565C>T, XM_011538999.1:c.565C>T, NM_207311.2:c.565C>T, NM_001367886.1:c.565C>T, XM_047429890.1:c.565C>T, NR_147892.1:n.590C>T, NR_147893.1:n.590C>T, NR_147894.1:n.590C>T, XM_047429888.1:c.565C>T, XR_007063143.1:n.1198C>T, XM_047429889.1:c.565C>T, XM_047429887.1:c.565C>T, XP_006719757.1:p.Arg189Trp, XP_006719759.1:p.Arg189Trp, XP_006719760.1:p.Arg189Trp, XP_011537301.1:p.Arg189Trp, NP_997194.2:p.Arg189Trp, NP_001354815.1:p.Arg189Trp, XP_047285846.1:p.Arg189Trp, XP_047285844.1:p.Arg189Trp, XP_047285845.1:p.Arg189Trp, XP_047285843.1:p.Arg189Trp

Select item 147491762816.

rs1474917628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:119989997 (GRCh38)
12:120427801 (GRCh37)
Canonical SPDI:: NC_000012.12:119989996:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.119989997C>T, NC_000012.11:g.120427801C>T, XM_006719694.4:c.129C>T, XM_006719694.3:c.129C>T, XM_006719694.2:c.129C>T, XM_006719694.1:c.129C>T, XM_006719696.4:c.129C>T, XM_006719696.3:c.129C>T, XM_006719696.2:c.129C>T, XM_006719696.1:c.129C>T, XM_006719697.4:c.129C>T, XM_006719697.3:c.129C>T, XM_006719697.2:c.129C>T, XM_006719697.1:c.129C>T, XM_011538999.3:c.129C>T, XM_011538999.2:c.129C>T, XM_011538999.1:c.129C>T, NM_207311.2:c.129C>T, NM_001367886.1:c.129C>T, XM_047429890.1:c.129C>T, NR_147892.1:n.154C>T, NR_147893.1:n.154C>T, NR_147894.1:n.154C>T, XM_047429888.1:c.129C>T, XR_007063143.1:n.762C>T, XM_047429889.1:c.129C>T, XM_047429887.1:c.129C>T

Select item 147453080817.

rs1474530808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120090052 (GRCh38)
12:120527856 (GRCh37)
Canonical SPDI:: NC_000012.12:120090051:A:G
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120090052A>G, NC_000012.11:g.120527856A>G, XM_006719694.4:c.1697A>G, XM_006719694.3:c.1697A>G, XM_006719694.2:c.1697A>G, XM_006719694.1:c.1697A>G, XM_006719696.4:c.1553A>G, XM_006719696.3:c.1553A>G, XM_006719696.2:c.1553A>G, XM_006719696.1:c.1553A>G, XM_006719697.4:c.1334A>G, XM_006719697.3:c.1334A>G, XM_006719697.2:c.1334A>G, XM_006719697.1:c.1334A>G, XM_011538999.3:c.1697A>G, XM_011538999.2:c.1697A>G, XM_011538999.1:c.1697A>G, NM_207311.2:c.1541A>G, XM_011539000.2:c.1085A>G, XM_011539000.1:c.1085A>G, NM_001367886.1:c.1685A>G, XM_047429890.1:c.1322A>G, NR_147892.1:n.1722A>G, NR_147893.1:n.1578A>G, NR_147894.1:n.1515A>G, XM_047429891.1:c.1073A>G, XM_047429888.1:c.1685A>G, XR_007063143.1:n.2330A>G, XM_047429889.1:c.1553A>G, XM_047429887.1:c.1697A>G, XP_006719757.1:p.Gln566Arg, XP_006719759.1:p.Gln518Arg, XP_006719760.1:p.Gln445Arg, XP_011537301.1:p.Gln566Arg, NP_997194.2:p.Gln514Arg, XP_011537302.1:p.Gln362Arg, NP_001354815.1:p.Gln562Arg, XP_047285846.1:p.Gln441Arg, XP_047285847.1:p.Gln358Arg, XP_047285844.1:p.Gln562Arg, XP_047285845.1:p.Gln518Arg, XP_047285843.1:p.Gln566Arg

Select item 147442918618.

rs1474429186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120080940 (GRCh38)
12:120518744 (GRCh37)
Canonical SPDI:: NC_000012.12:120080939:C:G
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120080940C>G, NC_000012.11:g.120518744C>G, XM_006719694.4:c.1518C>G, XM_006719694.3:c.1518C>G, XM_006719694.2:c.1518C>G, XM_006719694.1:c.1518C>G, XM_006719696.4:c.1374C>G, XM_006719696.3:c.1374C>G, XM_006719696.2:c.1374C>G, XM_006719696.1:c.1374C>G, XM_006719697.4:c.1155C>G, XM_006719697.3:c.1155C>G, XM_006719697.2:c.1155C>G, XM_006719697.1:c.1155C>G, XM_011538999.3:c.1518C>G, XM_011538999.2:c.1518C>G, XM_011538999.1:c.1518C>G, NM_207311.2:c.1362C>G, XM_011539000.2:c.906C>G, XM_011539000.1:c.906C>G, NM_001367886.1:c.1506C>G, XM_047429890.1:c.1143C>G, NR_147892.1:n.1543C>G, NR_147893.1:n.1399C>G, NR_147894.1:n.1336C>G, XM_047429891.1:c.894C>G, XM_047429888.1:c.1506C>G, XR_007063143.1:n.2151C>G, XM_047429889.1:c.1374C>G, XM_047429887.1:c.1518C>G

Select item 147286120619.

rs1472861206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:120093066 (GRCh38)
12:120530870 (GRCh37)
Canonical SPDI:: NC_000012.12:120093065:G:C
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120093066G>C, NC_000012.11:g.120530870G>C, XM_006719694.4:c.1783G>C, XM_006719694.3:c.1783G>C, XM_006719694.2:c.1783G>C, XM_006719694.1:c.1783G>C, XM_006719696.4:c.1639G>C, XM_006719696.3:c.1639G>C, XM_006719696.2:c.1639G>C, XM_006719696.1:c.1639G>C, XM_006719697.4:c.1420G>C, XM_006719697.3:c.1420G>C, XM_006719697.2:c.1420G>C, XM_006719697.1:c.1420G>C, NM_207311.2:c.1627G>C, XM_011539000.2:c.1171G>C, XM_011539000.1:c.1171G>C, NM_001367886.1:c.1771G>C, XM_047429890.1:c.1408G>C, NR_147892.1:n.1917G>C, NR_147893.1:n.1773G>C, NR_147894.1:n.1601G>C, XM_047429891.1:c.1159G>C, XP_006719757.1:p.Ala595Pro, XP_006719759.1:p.Ala547Pro, XP_006719760.1:p.Ala474Pro, NP_997194.2:p.Ala543Pro, XP_011537302.1:p.Ala391Pro, NP_001354815.1:p.Ala591Pro, XP_047285846.1:p.Ala470Pro, XP_047285847.1:p.Ala387Pro

Select item 147247548220.

rs1472475482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120093121 (GRCh38)
12:120530925 (GRCh37)
Canonical SPDI:: NC_000012.12:120093120:C:T
Gene:: BICDL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120093121C>T, NC_000012.11:g.120530925C>T, XM_006719694.4:c.1838C>T, XM_006719694.3:c.1838C>T, XM_006719694.2:c.1838C>T, XM_006719694.1:c.1838C>T, XM_006719696.4:c.1694C>T, XM_006719696.3:c.1694C>T, XM_006719696.2:c.1694C>T, XM_006719696.1:c.1694C>T, XM_006719697.4:c.1475C>T, XM_006719697.3:c.1475C>T, XM_006719697.2:c.1475C>T, XM_006719697.1:c.1475C>T, NM_207311.2:c.1682C>T, XM_011539000.2:c.1226C>T, XM_011539000.1:c.1226C>T, NM_001367886.1:c.1826C>T, XM_047429890.1:c.1463C>T, NR_147892.1:n.1972C>T, NR_147893.1:n.1828C>T, NR_147894.1:n.1656C>T, XM_047429891.1:c.1214C>T, XP_006719757.1:p.Ala613Val, XP_006719759.1:p.Ala565Val, XP_006719760.1:p.Ala492Val, NP_997194.2:p.Ala561Val, XP_011537302.1:p.Ala409Val, NP_001354815.1:p.Ala609Val, XP_047285846.1:p.Ala488Val, XP_047285847.1:p.Ala405Val

<< First< Prev

Page of 30

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 583

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity