SNP Links for Protein (Select 1001184421) - SNP

Links from Protein

Items: 1 to 20 of 233

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Select item 14900986981.

rs1490098698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:75017351 (GRCh38)
9:77632267 (GRCh37)
Canonical SPDI:: NC_000009.12:75017350:C:T
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.75017351C>T, NC_000009.11:g.77632267C>T, XM_011518223.3:c.328G>A, XM_011518223.2:c.526G>A, XM_011518223.1:c.526G>A, NM_152420.3:c.328G>A, NM_152420.2:c.328G>A, NM_152420.1:c.328G>A, NM_001320497.2:c.91G>A, NM_001320497.1:c.91G>A, NR_135282.1:n.517G>A, XM_047422766.1:c.328G>A, XP_011516525.2:p.Asp110Asn, NP_689633.1:p.Asp110Asn, NP_001307426.1:p.Asp31Asn, XP_047278722.1:p.Asp110Asn

Select item 14871300762.

rs1487130076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:74998644 (GRCh38)
9:77613560 (GRCh37)
Canonical SPDI:: NC_000009.12:74998643:G:A
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74998644G>A, NC_000009.11:g.77613560G>A, NM_152420.3:c.864C>T, NM_152420.2:c.864C>T, NM_152420.1:c.864C>T, NM_001320497.2:c.627C>T, NM_001320497.1:c.627C>T, NR_135282.1:n.912C>T, XM_047422766.1:c.864C>T

Select item 14799851583.

rs1479985158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:75017281 (GRCh38)
9:77632197 (GRCh37)
Canonical SPDI:: NC_000009.12:75017280:A:G
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.75017281A>G, NC_000009.11:g.77632197A>G, XM_011518223.3:c.398T>C, XM_011518223.2:c.596T>C, XM_011518223.1:c.596T>C, NM_152420.3:c.398T>C, NM_152420.2:c.398T>C, NM_152420.1:c.398T>C, NM_001320497.2:c.161T>C, NM_001320497.1:c.161T>C, NR_135282.1:n.587T>C, XM_047422766.1:c.398T>C, XP_011516525.2:p.Met133Thr, NP_689633.1:p.Met133Thr, NP_001307426.1:p.Met54Thr, XP_047278722.1:p.Met133Thr

Select item 14762762644.

rs1476276264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:74984967 (GRCh38)
9:77599883 (GRCh37)
Canonical SPDI:: NC_000009.12:74984966:G:T
Gene:: CARNMT1 (Varview), CARNMT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.74984967G>T, NC_000009.11:g.77599883G>T, NM_152420.3:c.1068C>A, NM_152420.2:c.1068C>A, NM_152420.1:c.1068C>A, NM_001320497.2:c.831C>A, NM_001320497.1:c.831C>A, NR_135282.1:n.1116C>A

Select item 14743482005.

rs1474348200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:75017368 (GRCh38)
9:77632284 (GRCh37)
Canonical SPDI:: NC_000009.12:75017367:T:A,NC_000009.12:75017367:T:C
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.75017368T>A, NC_000009.12:g.75017368T>C, NC_000009.11:g.77632284T>A, NC_000009.11:g.77632284T>C, XM_011518223.3:c.311A>T, XM_011518223.3:c.311A>G, XM_011518223.2:c.509A>T, XM_011518223.2:c.509A>G, XM_011518223.1:c.509A>T, XM_011518223.1:c.509A>G, NM_152420.3:c.311A>T, NM_152420.3:c.311A>G, NM_152420.2:c.311A>T, NM_152420.2:c.311A>G, NM_152420.1:c.311A>T, NM_152420.1:c.311A>G, NM_001320497.2:c.74A>T, NM_001320497.2:c.74A>G, NM_001320497.1:c.74A>T, NM_001320497.1:c.74A>G, NR_135282.1:n.500A>T, NR_135282.1:n.500A>G, XM_047422766.1:c.311A>T, XM_047422766.1:c.311A>G, XP_011516525.2:p.Gln104Leu, XP_011516525.2:p.Gln104Arg, NP_689633.1:p.Gln104Leu, NP_689633.1:p.Gln104Arg, NP_001307426.1:p.Gln25Leu, NP_001307426.1:p.Gln25Arg, XP_047278722.1:p.Gln104Leu, XP_047278722.1:p.Gln104Arg

Select item 14678224506.

rs1467822450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:74999768 (GRCh38)
9:77614684 (GRCh37)
Canonical SPDI:: NC_000009.12:74999767:A:T
Gene:: CARNMT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74999768A>T, NC_000009.11:g.77614684A>T, NM_152420.3:c.693T>A, NM_152420.2:c.693T>A, NM_152420.1:c.693T>A, NM_001320497.2:c.456T>A, NM_001320497.1:c.456T>A, XM_047422766.1:c.693T>A, NP_689633.1:p.Ser231Arg, NP_001307426.1:p.Ser152Arg, XP_047278722.1:p.Ser231Arg

Select item 14669697547.

rs1466969754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:75017269 (GRCh38)
9:77632185 (GRCh37)
Canonical SPDI:: NC_000009.12:75017268:T:C
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001119/5 (ALFA)
C=0.000021/3 (GnomAD)
C=0.001116/5 (Estonian)
HGVS:: NC_000009.12:g.75017269T>C, NC_000009.11:g.77632185T>C, XM_011518223.3:c.410A>G, XM_011518223.2:c.608A>G, XM_011518223.1:c.608A>G, NM_152420.3:c.410A>G, NM_152420.2:c.410A>G, NM_152420.1:c.410A>G, NM_001320497.2:c.173A>G, NM_001320497.1:c.173A>G, NR_135282.1:n.599A>G, XM_047422766.1:c.410A>G, XP_011516525.2:p.Lys137Arg, NP_689633.1:p.Lys137Arg, NP_001307426.1:p.Lys58Arg, XP_047278722.1:p.Lys137Arg

Select item 14665423338.

rs1466542333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:74999785 (GRCh38)
9:77614701 (GRCh37)
Canonical SPDI:: NC_000009.12:74999784:G:C
Gene:: CARNMT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.74999785G>C, NC_000009.11:g.77614701G>C, NM_152420.3:c.676C>G, NM_152420.2:c.676C>G, NM_152420.1:c.676C>G, NM_001320497.2:c.439C>G, NM_001320497.1:c.439C>G, XM_047422766.1:c.676C>G, NP_689633.1:p.Gln226Glu, NP_001307426.1:p.Gln147Glu, XP_047278722.1:p.Gln226Glu

Select item 14663301899.

rs1466330189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:75016410 (GRCh38)
9:77631326 (GRCh37)
Canonical SPDI:: NC_000009.12:75016409:C:T
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.75016410C>T, NC_000009.11:g.77631326C>T, XM_011518223.3:c.448G>A, XM_011518223.2:c.646G>A, XM_011518223.1:c.646G>A, NM_152420.3:c.448G>A, NM_152420.2:c.448G>A, NM_152420.1:c.448G>A, NM_001320497.2:c.211G>A, NM_001320497.1:c.211G>A, NR_135282.1:n.637G>A, XM_047422766.1:c.448G>A, XP_011516525.2:p.Ala150Thr, NP_689633.1:p.Ala150Thr, NP_001307426.1:p.Ala71Thr, XP_047278722.1:p.Ala150Thr

Select item 146549879610.

rs1465498796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:74983780 (GRCh38)
9:77598696 (GRCh37)
Canonical SPDI:: NC_000009.12:74983779:C:T
Gene:: CARNMT1 (Varview), CARNMT1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74983780C>T, NC_000009.11:g.77598696C>T, NM_152420.3:c.1217G>A, NM_152420.2:c.1217G>A, NM_152420.1:c.1217G>A, NM_001320497.2:c.980G>A, NM_001320497.1:c.980G>A, NR_135282.1:n.1265G>A, NP_689633.1:p.Arg406His, NP_001307426.1:p.Arg327His

Select item 146393878311.

rs1463938783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:74996544 (GRCh38)
9:77611460 (GRCh37)
Canonical SPDI:: NC_000009.12:74996543:A:C
Gene:: CARNMT1 (Varview), CARNMT1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.74996544A>C, NC_000009.11:g.77611460A>C, NM_152420.3:c.927T>G, NM_152420.2:c.927T>G, NM_152420.1:c.927T>G, NM_001320497.2:c.690T>G, NM_001320497.1:c.690T>G, NR_135282.1:n.975T>G, NR_121183.1:n.973A>C, NP_689633.1:p.Ile309Met, NP_001307426.1:p.Ile230Met

Select item 144391321912.

rs1443913219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:74998757 (GRCh38)
9:77613673 (GRCh37)
Canonical SPDI:: NC_000009.12:74998756:A:T
Gene:: CARNMT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.74998757A>T, NC_000009.11:g.77613673A>T, NM_152420.3:c.751T>A, NM_152420.2:c.751T>A, NM_152420.1:c.751T>A, NM_001320497.2:c.514T>A, NM_001320497.1:c.514T>A, NR_135282.1:n.799T>A, XM_047422766.1:c.751T>A, NP_689633.1:p.Tyr251Asn, NP_001307426.1:p.Tyr172Asn, XP_047278722.1:p.Tyr251Asn

Select item 144338203213.

rs1443382032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:75016396 (GRCh38)
9:77631312 (GRCh37)
Canonical SPDI:: NC_000009.12:75016395:G:A
Gene:: CARNMT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.75016396G>A, NC_000009.11:g.77631312G>A, XM_011518223.3:c.462C>T, XM_011518223.2:c.660C>T, XM_011518223.1:c.660C>T, NM_152420.3:c.462C>T, NM_152420.2:c.462C>T, NM_152420.1:c.462C>T, NM_001320497.2:c.225C>T, NM_001320497.1:c.225C>T, NR_135282.1:n.651C>T, XM_047422766.1:c.462C>T

Select item 144029116114.

rs1440291161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:74998776 (GRCh38)
9:77613692 (GRCh37)
Canonical SPDI:: NC_000009.12:74998775:T:C
Gene:: CARNMT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.74998776T>C, NC_000009.11:g.77613692T>C, NM_152420.3:c.732A>G, NM_152420.2:c.732A>G, NM_152420.1:c.732A>G, NM_001320497.2:c.495A>G, NM_001320497.1:c.495A>G, NR_135282.1:n.780A>G, XM_047422766.1:c.732A>G

Select item 143784953815.

rs1437849538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:74998700 (GRCh38)
9:77613616 (GRCh37)
Canonical SPDI:: NC_000009.12:74998699:T:C
Gene:: CARNMT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.74998700T>C, NC_000009.11:g.77613616T>C, NM_152420.3:c.808A>G, NM_152420.2:c.808A>G, NM_152420.1:c.808A>G, NM_001320497.2:c.571A>G, NM_001320497.1:c.571A>G, NR_135282.1:n.856A>G, XM_047422766.1:c.808A>G, NP_689633.1:p.Ile270Val, NP_001307426.1:p.Ile191Val, XP_047278722.1:p.Ile270Val

Select item 142913136916.

rs1429131369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:75017405 (GRCh38)
9:77632321 (GRCh37)
Canonical SPDI:: NC_000009.12:75017404:G:A
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.75017405G>A, NC_000009.11:g.77632321G>A, XM_011518223.3:c.274C>T, XM_011518223.2:c.472C>T, XM_011518223.1:c.472C>T, NM_152420.3:c.274C>T, NM_152420.2:c.274C>T, NM_152420.1:c.274C>T, NM_001320497.2:c.37C>T, NM_001320497.1:c.37C>T, NR_135282.1:n.463C>T, XM_047422766.1:c.274C>T, XP_011516525.2:p.Arg92Ter, NP_689633.1:p.Arg92Ter, NP_001307426.1:p.Arg13Ter, XP_047278722.1:p.Arg92Ter

Select item 142827244617.

rs1428272446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:74983864 (GRCh38)
9:77598780 (GRCh37)
Canonical SPDI:: NC_000009.12:74983863:T:C
Gene:: CARNMT1 (Varview), CARNMT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74983864T>C, NC_000009.11:g.77598780T>C, NM_152420.3:c.1133A>G, NM_152420.2:c.1133A>G, NM_152420.1:c.1133A>G, NM_001320497.2:c.896A>G, NM_001320497.1:c.896A>G, NR_135282.1:n.1181A>G, NP_689633.1:p.Glu378Gly, NP_001307426.1:p.Glu299Gly

Select item 142683754018.

rs1426837540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:75017271 (GRCh38)
9:77632187 (GRCh37)
Canonical SPDI:: NC_000009.12:75017270:A:G
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000009.12:g.75017271A>G, NC_000009.11:g.77632187A>G, XM_011518223.3:c.408T>C, XM_011518223.2:c.606T>C, XM_011518223.1:c.606T>C, NM_152420.3:c.408T>C, NM_152420.2:c.408T>C, NM_152420.1:c.408T>C, NM_001320497.2:c.171T>C, NM_001320497.1:c.171T>C, NR_135282.1:n.597T>C, XM_047422766.1:c.408T>C

Select item 142408954719.

rs1424089547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:74998679 (GRCh38)
9:77613595 (GRCh37)
Canonical SPDI:: NC_000009.12:74998678:C:G
Gene:: CARNMT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74998679C>G, NC_000009.11:g.77613595C>G, NM_152420.3:c.829G>C, NM_152420.2:c.829G>C, NM_152420.1:c.829G>C, NM_001320497.2:c.592G>C, NM_001320497.1:c.592G>C, NR_135282.1:n.877G>C, XM_047422766.1:c.829G>C, NP_689633.1:p.Asp277His, NP_001307426.1:p.Asp198His, XP_047278722.1:p.Asp277His

Select item 142258083320.

rs1422580833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:74996493 (GRCh38)
9:77611409 (GRCh37)
Canonical SPDI:: NC_000009.12:74996492:A:G
Gene:: CARNMT1 (Varview), CARNMT1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.74996493A>G, NC_000009.11:g.77611409A>G, NM_152420.3:c.978T>C, NM_152420.2:c.978T>C, NM_152420.1:c.978T>C, NM_001320497.2:c.741T>C, NM_001320497.1:c.741T>C, NR_135282.1:n.1026T>C, NR_121183.1:n.922A>G

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