SNP Links for Protein (Select 45006986) - SNP

Links from Protein

Items: 1 to 20 of 325

<< First< Prev

Page of 17

Next >Last >>

Select item 14874089331.

rs1487408933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106328177 (GRCh38)
4:107249334 (GRCh37)
Canonical SPDI:: NC_000004.12:106328176:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106328177A>G, NC_000004.11:g.107249334A>G, NG_028166.1:g.17568A>G, NM_004757.4:c.325A>G, NM_004757.3:c.325A>G, NM_001142415.2:c.325A>G, NM_001142415.1:c.325A>G, NM_001142416.2:c.325A>G, NM_001142416.1:c.397A>G, XM_017008835.3:c.325A>G, XM_017008835.2:c.325A>G, XM_017008835.1:c.325A>G, XM_047416410.1:c.325A>G, NP_004748.2:p.Thr109Ala, NP_001135887.1:p.Thr109Ala, NP_001135888.2:p.Thr109Ala, XP_016864324.1:p.Thr109Ala, XP_047272366.1:p.Thr109Ala

Select item 14871048012.

rs1487104801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106327530 (GRCh38)
4:107248687 (GRCh37)
Canonical SPDI:: NC_000004.12:106327529:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106327530A>G, NC_000004.11:g.107248687A>G, NG_028166.1:g.16921A>G, NM_004757.4:c.189A>G, NM_004757.3:c.189A>G, NM_001142415.2:c.189A>G, NM_001142415.1:c.189A>G, NM_001142416.2:c.189A>G, NM_001142416.1:c.261A>G, XM_017008835.3:c.189A>G, XM_017008835.2:c.189A>G, XM_017008835.1:c.189A>G, XM_047416410.1:c.189A>G

Select item 14797916253.

rs1479791625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:106331801 (GRCh38)
4:107252958 (GRCh37)
Canonical SPDI:: NC_000004.12:106331800:T:C
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106331801T>C, NC_000004.11:g.107252958T>C, NG_028166.1:g.21192T>C, NM_004757.4:c.521T>C, NM_004757.3:c.521T>C, NM_001142415.2:c.521T>C, NM_001142415.1:c.521T>C, NM_001142416.2:c.521T>C, NM_001142416.1:c.593T>C, XM_017008835.3:c.521T>C, XM_017008835.2:c.521T>C, XM_017008835.1:c.521T>C, XM_047416410.1:c.521T>C, NP_004748.2:p.Leu174Ser, NP_001135887.1:p.Leu174Ser, NP_001135888.2:p.Leu174Ser, XP_016864324.1:p.Leu174Ser, XP_047272366.1:p.Leu174Ser

Select item 14791446554.

rs1479144655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:106347681 (GRCh38)
4:107268838 (GRCh37)
Canonical SPDI:: NC_000004.12:106347680:G:A
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.106347681G>A, NC_000004.11:g.107268838G>A, NG_028166.1:g.37072G>A, NM_004757.4:c.928G>A, NM_004757.3:c.928G>A, NM_001142415.2:c.928G>A, NM_001142415.1:c.928G>A, NM_001142416.2:c.928G>A, NM_001142416.1:c.1000G>A, XM_017008835.3:c.928G>A, XM_017008835.2:c.928G>A, XM_017008835.1:c.928G>A, XM_047416410.1:c.928G>A, NP_004748.2:p.Gly310Arg, NP_001135887.1:p.Gly310Arg, NP_001135888.2:p.Gly310Arg, XP_016864324.1:p.Gly310Arg, XP_047272366.1:p.Gly310Arg

Select item 14781575165.

rs1478157516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106328191 (GRCh38)
4:107249348 (GRCh37)
Canonical SPDI:: NC_000004.12:106328190:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.106328191A>G, NC_000004.11:g.107249348A>G, NG_028166.1:g.17582A>G, NM_004757.4:c.339A>G, NM_004757.3:c.339A>G, NM_001142415.2:c.339A>G, NM_001142415.1:c.339A>G, NM_001142416.2:c.339A>G, NM_001142416.1:c.411A>G, XM_017008835.3:c.339A>G, XM_017008835.2:c.339A>G, XM_017008835.1:c.339A>G, XM_047416410.1:c.339A>G, NP_004748.2:p.Ile113Met, NP_001135887.1:p.Ile113Met, NP_001135888.2:p.Ile113Met, XP_016864324.1:p.Ile113Met, XP_047272366.1:p.Ile113Met

Select item 14751903606.

rs1475190360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:106336884 (GRCh38)
4:107258041 (GRCh37)
Canonical SPDI:: NC_000004.12:106336883:G:A
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.106336884G>A, NC_000004.11:g.107258041G>A, NG_028166.1:g.26275G>A, NM_004757.4:c.619G>A, NM_004757.3:c.619G>A, NM_001142415.2:c.619G>A, NM_001142415.1:c.619G>A, NM_001142416.2:c.619G>A, NM_001142416.1:c.691G>A, XM_017008835.3:c.619G>A, XM_017008835.2:c.619G>A, XM_017008835.1:c.619G>A, XM_047416410.1:c.619G>A, NP_004748.2:p.Val207Met, NP_001135887.1:p.Val207Met, NP_001135888.2:p.Val207Met, XP_016864324.1:p.Val207Met, XP_047272366.1:p.Val207Met

Select item 14719850787.

rs1471985078 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:106328087 (GRCh38)
4:107249244 (GRCh37)
Canonical SPDI:: NC_000004.12:106328086:CC:C
Gene:: AIMP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.106328088del, NC_000004.11:g.107249245del, NG_028166.1:g.17479del, NM_004757.4:c.236del, NM_004757.3:c.236del, NM_001142415.2:c.236del, NM_001142415.1:c.236del, NM_001142416.2:c.236del, NM_001142416.1:c.308del, XM_017008835.3:c.236del, XM_017008835.2:c.236del, XM_017008835.1:c.236del, XM_047416410.1:c.236del, NP_004748.2:p.Pro79fs, NP_001135887.1:p.Pro79fs, NP_001135888.2:p.Pro79fs, XP_016864324.1:p.Pro79fs, XP_047272366.1:p.Pro79fs

Select item 14637923728.

rs1463792372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:106327482 (GRCh38)
4:107248639 (GRCh37)
Canonical SPDI:: NC_000004.12:106327481:A:C
Gene:: AIMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.106327482A>C, NC_000004.11:g.107248639A>C, NG_028166.1:g.16873A>C, NM_004757.4:c.141A>C, NM_004757.3:c.141A>C, NM_001142415.2:c.141A>C, NM_001142415.1:c.141A>C, NM_001142416.2:c.141A>C, NM_001142416.1:c.213A>C, XM_017008835.3:c.141A>C, XM_017008835.2:c.141A>C, XM_017008835.1:c.141A>C, XM_047416410.1:c.141A>C, NP_004748.2:p.Lys47Asn, NP_001135887.1:p.Lys47Asn, NP_001135888.2:p.Lys47Asn, XP_016864324.1:p.Lys47Asn, XP_047272366.1:p.Lys47Asn

Select item 14616956659.

rs1461695665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:106328188 (GRCh38)
4:107249345 (GRCh37)
Canonical SPDI:: NC_000004.12:106328187:G:A
Gene:: AIMP1 (Varview)
Functional Consequence:: synonymous_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_000004.12:g.106328188G>A, NC_000004.11:g.107249345G>A, NG_028166.1:g.17579G>A, NM_004757.4:c.336G>A, NM_004757.3:c.336G>A, NM_001142415.2:c.336G>A, NM_001142415.1:c.336G>A, NM_001142416.2:c.336G>A, NM_001142416.1:c.408G>A, XM_017008835.3:c.336G>A, XM_017008835.2:c.336G>A, XM_017008835.1:c.336G>A, XM_047416410.1:c.336G>A

Select item 146103255210.

rs1461032552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:106331825 (GRCh38)
4:107252982 (GRCh37)
Canonical SPDI:: NC_000004.12:106331824:G:C
Gene:: AIMP1 (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_000004.12:g.106331825G>C, NC_000004.11:g.107252982G>C, NG_028166.1:g.21216G>C, NM_004757.4:c.545G>C, NM_004757.3:c.545G>C, NM_001142415.2:c.545G>C, NM_001142415.1:c.545G>C, NM_001142416.2:c.545G>C, NM_001142416.1:c.617G>C, XM_017008835.3:c.545G>C, XM_017008835.2:c.545G>C, XM_017008835.1:c.545G>C, XM_047416410.1:c.545G>C, NP_004748.2:p.Gly182Ala, NP_001135887.1:p.Gly182Ala, NP_001135888.2:p.Gly182Ala, XP_016864324.1:p.Gly182Ala, XP_047272366.1:p.Gly182Ala

Select item 146021402211.

rs1460214022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106347689 (GRCh38)
4:107268846 (GRCh37)
Canonical SPDI:: NC_000004.12:106347688:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.106347689A>G, NC_000004.11:g.107268846A>G, NG_028166.1:g.37080A>G, NM_004757.4:c.936A>G, NM_004757.3:c.936A>G, NM_001142415.2:c.936A>G, NM_001142415.1:c.936A>G, NM_001142416.2:c.936A>G, NM_001142416.1:c.1008A>G, XM_017008835.3:c.936A>G, XM_017008835.2:c.936A>G, XM_017008835.1:c.936A>G, XM_047416410.1:c.936A>G

Select item 145425896512.

rs1454258965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:106328149 (GRCh38)
4:107249306 (GRCh37)
Canonical SPDI:: NC_000004.12:106328148:T:C
Gene:: AIMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.106328149T>C, NC_000004.11:g.107249306T>C, NG_028166.1:g.17540T>C, NM_004757.4:c.297T>C, NM_004757.3:c.297T>C, NM_001142415.2:c.297T>C, NM_001142415.1:c.297T>C, NM_001142416.2:c.297T>C, NM_001142416.1:c.369T>C, XM_017008835.3:c.297T>C, XM_017008835.2:c.297T>C, XM_017008835.1:c.297T>C, XM_047416410.1:c.297T>C

Select item 145258943813.

rs1452589438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106331795 (GRCh38)
4:107252952 (GRCh37)
Canonical SPDI:: NC_000004.12:106331794:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106331795A>G, NC_000004.11:g.107252952A>G, NG_028166.1:g.21186A>G, NM_004757.4:c.515A>G, NM_004757.3:c.515A>G, NM_001142415.2:c.515A>G, NM_001142415.1:c.515A>G, NM_001142416.2:c.515A>G, NM_001142416.1:c.587A>G, XM_017008835.3:c.515A>G, XM_017008835.2:c.515A>G, XM_017008835.1:c.515A>G, XM_047416410.1:c.515A>G, NP_004748.2:p.Asp172Gly, NP_001135887.1:p.Asp172Gly, NP_001135888.2:p.Asp172Gly, XP_016864324.1:p.Asp172Gly, XP_047272366.1:p.Asp172Gly

Select item 145244188914.

rs1452441889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:106331703 (GRCh38)
4:107252860 (GRCh37)
Canonical SPDI:: NC_000004.12:106331702:A:G
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.106331703A>G, NC_000004.11:g.107252860A>G, NG_028166.1:g.21094A>G, NM_004757.4:c.423A>G, NM_004757.3:c.423A>G, NM_001142415.2:c.423A>G, NM_001142415.1:c.423A>G, NM_001142416.2:c.423A>G, NM_001142416.1:c.495A>G, XM_017008835.3:c.423A>G, XM_017008835.2:c.423A>G, XM_017008835.1:c.423A>G, XM_047416410.1:c.423A>G, NP_004748.2:p.Ile141Met, NP_001135887.1:p.Ile141Met, NP_001135888.2:p.Ile141Met, XP_016864324.1:p.Ile141Met, XP_047272366.1:p.Ile141Met

Select item 145164029215.

rs1451640292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:106336933 (GRCh38)
4:107258090 (GRCh37)
Canonical SPDI:: NC_000004.12:106336932:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106336933C>T, NC_000004.11:g.107258090C>T, NG_028166.1:g.26324C>T, NM_004757.4:c.668C>T, NM_004757.3:c.668C>T, NM_001142415.2:c.668C>T, NM_001142415.1:c.668C>T, NM_001142416.2:c.668C>T, NM_001142416.1:c.740C>T, XM_017008835.3:c.668C>T, XM_017008835.2:c.668C>T, XM_017008835.1:c.668C>T, XM_047416410.1:c.668C>T, NP_004748.2:p.Ser223Phe, NP_001135887.1:p.Ser223Phe, NP_001135888.2:p.Ser223Phe, XP_016864324.1:p.Ser223Phe, XP_047272366.1:p.Ser223Phe

Select item 144819012616.

rs1448190126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:106328097 (GRCh38)
4:107249254 (GRCh37)
Canonical SPDI:: NC_000004.12:106328096:C:G
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106328097C>G, NC_000004.11:g.107249254C>G, NG_028166.1:g.17488C>G, NM_004757.4:c.245C>G, NM_004757.3:c.245C>G, NM_001142415.2:c.245C>G, NM_001142415.1:c.245C>G, NM_001142416.2:c.245C>G, NM_001142416.1:c.317C>G, XM_017008835.3:c.245C>G, XM_017008835.2:c.245C>G, XM_017008835.1:c.245C>G, XM_047416410.1:c.245C>G, NP_004748.2:p.Ser82Cys, NP_001135887.1:p.Ser82Cys, NP_001135888.2:p.Ser82Cys, XP_016864324.1:p.Ser82Cys, XP_047272366.1:p.Ser82Cys

Select item 144796930917.

rs1447969309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:106331794 (GRCh38)
4:107252951 (GRCh37)
Canonical SPDI:: NC_000004.12:106331793:G:C
Gene:: AIMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.106331794G>C, NC_000004.11:g.107252951G>C, NG_028166.1:g.21185G>C, NM_004757.4:c.514G>C, NM_004757.3:c.514G>C, NM_001142415.2:c.514G>C, NM_001142415.1:c.514G>C, NM_001142416.2:c.514G>C, NM_001142416.1:c.586G>C, XM_017008835.3:c.514G>C, XM_017008835.2:c.514G>C, XM_017008835.1:c.514G>C, XM_047416410.1:c.514G>C, NP_004748.2:p.Asp172His, NP_001135887.1:p.Asp172His, NP_001135888.2:p.Asp172His, XP_016864324.1:p.Asp172His, XP_047272366.1:p.Asp172His

Select item 144642468718.

rs1446424687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:106328144 (GRCh38)
4:107249301 (GRCh37)
Canonical SPDI:: NC_000004.12:106328143:C:T
Gene:: AIMP1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106328144C>T, NC_000004.11:g.107249301C>T, NG_028166.1:g.17535C>T, NM_004757.4:c.292C>T, NM_004757.3:c.292C>T, NM_001142415.2:c.292C>T, NM_001142415.1:c.292C>T, NM_001142416.2:c.292C>T, NM_001142416.1:c.364C>T, XM_017008835.3:c.292C>T, XM_017008835.2:c.292C>T, XM_017008835.1:c.292C>T, XM_047416410.1:c.292C>T, NP_004748.2:p.Gln98Ter, NP_001135887.1:p.Gln98Ter, NP_001135888.2:p.Gln98Ter, XP_016864324.1:p.Gln98Ter, XP_047272366.1:p.Gln98Ter

Select item 144324038319.

rs1443240383 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGG>- [Show Flanks]
Chromosome:: 4:106347645 (GRCh38)
4:107268802 (GRCh37)
Canonical SPDI:: NC_000004.12:106347642:GGAAGG:GG
Gene:: AIMP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.106347645_106347648del, NC_000004.11:g.107268802_107268805del, NG_028166.1:g.37036_37039del, NM_004757.4:c.892_895del, NM_004757.3:c.892_895del, NM_001142415.2:c.892_895del, NM_001142415.1:c.892_895del, NM_001142416.2:c.892_895del, NM_001142416.1:c.964_967del, XM_017008835.3:c.892_895del, XM_017008835.2:c.892_895del, XM_017008835.1:c.892_895del, XM_047416410.1:c.892_895del, NP_004748.2:p.Lys298fs, NP_001135887.1:p.Lys298fs, NP_001135888.2:p.Lys298fs, XP_016864324.1:p.Lys298fs, XP_047272366.1:p.Lys298fs

Select item 144225892920.

rs1442258929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:106325105 (GRCh38)
4:107246262 (GRCh37)
Canonical SPDI:: NC_000004.12:106325104:T:A
Gene:: AIMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.106325105T>A, NC_000004.11:g.107246262T>A, NG_028166.1:g.14496T>A, NM_004757.4:c.96T>A, NM_004757.3:c.96T>A, NM_001142415.2:c.96T>A, NM_001142415.1:c.96T>A, NM_001142416.2:c.96T>A, NM_001142416.1:c.168T>A, XM_017008835.3:c.96T>A, XM_017008835.2:c.96T>A, XM_017008835.1:c.96T>A, XM_047416410.1:c.96T>A

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 325

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity