SNP Links for Protein (Select 394025686) - SNP

Links from Protein

Items: 1 to 20 of 67

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Select item 14633248471.

rs1463324847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123265294 (GRCh38)
12:123749841 (GRCh37)
Canonical SPDI:: NC_000012.12:123265293:C:T
Gene:: CDK2AP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_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_000012.12:g.123265294C>T, NC_000012.11:g.123749841C>T, NM_004642.4:c.182G>A, NM_004642.3:c.182G>A, NR_073008.2:n.492G>A, NR_073008.1:n.343G>A, NM_001270434.2:c.98G>A, NM_001270434.1:c.98G>A, NM_001270433.2:c.98G>A, NM_001270433.1:c.98G>A, NR_073007.2:n.211G>A, NR_073007.1:n.287G>A, NP_004633.1:p.Ser61Asn, NP_001257363.1:p.Ser33Asn, NP_001257362.1:p.Ser33Asn

Select item 14559025392.

rs1455902539 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:123261765 (GRCh38)
12:123746312 (GRCh37)
Canonical SPDI:: NC_000012.12:123261764:CC:C
Gene:: CDK2AP1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000024/6 (GnomAD_exomes)
-=0.000057/15 (TOPMED)
-=0.000078/11 (GnomAD)
HGVS:: NC_000012.12:g.123261766del, NC_000012.11:g.123746313del, NM_004642.4:c.319del, NM_004642.3:c.319del, NR_073008.2:n.629del, NR_073008.1:n.480del, NM_001270434.2:c.235del, NM_001270434.1:c.235del, NM_001270433.2:c.235del, NM_001270433.1:c.235del, NR_073007.2:n.348del, NR_073007.1:n.424del, NP_004633.1:p.Ala107fs, NP_001257363.1:p.Ala79fs, NP_001257362.1:p.Ala79fs

Select item 14479195953.

rs1447919595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:123265244 (GRCh38)
12:123749791 (GRCh37)
Canonical SPDI:: NC_000012.12:123265243:T:G
Gene:: CDK2AP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123265244T>G, NC_000012.11:g.123749791T>G, NM_004642.4:c.232A>C, NM_004642.3:c.232A>C, NR_073008.2:n.542A>C, NR_073008.1:n.393A>C, NM_001270434.2:c.148A>C, NM_001270434.1:c.148A>C, NM_001270433.2:c.148A>C, NM_001270433.1:c.148A>C, NR_073007.2:n.261A>C, NR_073007.1:n.337A>C

Select item 14405332204.

rs1440533220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123265301 (GRCh38)
12:123749848 (GRCh37)
Canonical SPDI:: NC_000012.12:123265300:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123265301G>A, NC_000012.11:g.123749848G>A, NM_004642.4:c.175C>T, NM_004642.3:c.175C>T, NR_073008.2:n.485C>T, NR_073008.1:n.336C>T, NM_001270434.2:c.91C>T, NM_001270434.1:c.91C>T, NM_001270433.2:c.91C>T, NM_001270433.1:c.91C>T, NR_073007.2:n.204C>T, NR_073007.1:n.280C>T, NP_004633.1:p.Pro59Ser, NP_001257363.1:p.Pro31Ser, NP_001257362.1:p.Pro31Ser

Select item 14300158275.

rs1430015827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123265237 (GRCh38)
12:123749784 (GRCh37)
Canonical SPDI:: NC_000012.12:123265236:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000048/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.123265237G>A, NC_000012.11:g.123749784G>A, NM_004642.4:c.239C>T, NM_004642.3:c.239C>T, NR_073008.2:n.549C>T, NR_073008.1:n.400C>T, NM_001270434.2:c.155C>T, NM_001270434.1:c.155C>T, NM_001270433.2:c.155C>T, NM_001270433.1:c.155C>T, NR_073007.2:n.268C>T, NR_073007.1:n.344C>T, NP_004633.1:p.Thr80Met, NP_001257363.1:p.Thr52Met, NP_001257362.1:p.Thr52Met

Select item 14132747896.

rs1413274789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123267231 (GRCh38)
12:123751778 (GRCh37)
Canonical SPDI:: NC_000012.12:123267230:C:T
Gene:: CDK2AP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123267231C>T, NC_000012.11:g.123751778C>T, NM_004642.4:c.107G>A, NM_004642.3:c.107G>A, NR_073008.2:n.417G>A, NR_073008.1:n.268G>A, NM_001270434.2:c.23G>A, NM_001270434.1:c.23G>A, NM_001270433.2:c.23G>A, NM_001270433.1:c.23G>A, NR_073007.2:n.136G>A, NR_073007.1:n.212G>A, NP_004633.1:p.Arg36His, NP_001257363.1:p.Arg8His, NP_001257362.1:p.Arg8His

Select item 14095701577.

rs1409570157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:123261742 (GRCh38)
12:123746289 (GRCh37)
Canonical SPDI:: NC_000012.12:123261741:T:C
Gene:: CDK2AP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123261742T>C, NC_000012.11:g.123746289T>C, NM_004642.4:c.342A>G, NM_004642.3:c.342A>G, NR_073008.2:n.652A>G, NR_073008.1:n.503A>G, NM_001270434.2:c.258A>G, NM_001270434.1:c.258A>G, NM_001270433.2:c.258A>G, NM_001270433.1:c.258A>G, NR_073007.2:n.371A>G, NR_073007.1:n.447A>G

Select item 13901626558.

rs1390162655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123261758 (GRCh38)
12:123746305 (GRCh37)
Canonical SPDI:: NC_000012.12:123261757:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123261758G>A, NC_000012.11:g.123746305G>A, NM_004642.4:c.326C>T, NM_004642.3:c.326C>T, NR_073008.2:n.636C>T, NR_073008.1:n.487C>T, NM_001270434.2:c.242C>T, NM_001270434.1:c.242C>T, NM_001270433.2:c.242C>T, NM_001270433.1:c.242C>T, NR_073007.2:n.355C>T, NR_073007.1:n.431C>T, NP_004633.1:p.Thr109Met, NP_001257363.1:p.Thr81Met, NP_001257362.1:p.Thr81Met

Select item 13800353409.

rs1380035340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123261777 (GRCh38)
12:123746324 (GRCh37)
Canonical SPDI:: NC_000012.12:123261776:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.123261777G>A, NC_000012.11:g.123746324G>A, NM_004642.4:c.307C>T, NM_004642.3:c.307C>T, NR_073008.2:n.617C>T, NR_073008.1:n.468C>T, NM_001270434.2:c.223C>T, NM_001270434.1:c.223C>T, NM_001270433.2:c.223C>T, NM_001270433.1:c.223C>T, NR_073007.2:n.336C>T, NR_073007.1:n.412C>T, NP_004633.1:p.Arg103Trp, NP_001257363.1:p.Arg75Trp, NP_001257362.1:p.Arg75Trp

Select item 136780305910.

rs1367803059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123261774 (GRCh38)
12:123746321 (GRCh37)
Canonical SPDI:: NC_000012.12:123261773:C:T
Gene:: CDK2AP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000012.12:g.123261774C>T, NC_000012.11:g.123746321C>T, NM_004642.4:c.310G>A, NM_004642.3:c.310G>A, NR_073008.2:n.620G>A, NR_073008.1:n.471G>A, NM_001270434.2:c.226G>A, NM_001270434.1:c.226G>A, NM_001270433.2:c.226G>A, NM_001270433.1:c.226G>A, NR_073007.2:n.339G>A, NR_073007.1:n.415G>A, NP_004633.1:p.Glu104Lys, NP_001257363.1:p.Glu76Lys, NP_001257362.1:p.Glu76Lys

Select item 136642383811.

rs1366423838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:123267197 (GRCh38)
12:123751744 (GRCh37)
Canonical SPDI:: NC_000012.12:123267196:T:C
Gene:: CDK2AP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000012.12:g.123267197T>C, NC_000012.11:g.123751744T>C, NM_004642.4:c.141A>G, NM_004642.3:c.141A>G, NR_073008.2:n.451A>G, NR_073008.1:n.302A>G, NM_001270434.2:c.57A>G, NM_001270434.1:c.57A>G, NM_001270433.2:c.57A>G, NM_001270433.1:c.57A>G, NR_073007.2:n.170A>G, NR_073007.1:n.246A>G

Select item 135031198112.

rs1350311981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123261792 (GRCh38)
12:123746339 (GRCh37)
Canonical SPDI:: NC_000012.12:123261791:C:T
Gene:: CDK2AP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.123261792C>T, NC_000012.11:g.123746339C>T, NM_004642.4:c.292G>A, NM_004642.3:c.292G>A, NR_073008.2:n.602G>A, NR_073008.1:n.453G>A, NM_001270434.2:c.208G>A, NM_001270434.1:c.208G>A, NM_001270433.2:c.208G>A, NM_001270433.1:c.208G>A, NR_073007.2:n.321G>A, NR_073007.1:n.397G>A, NP_004633.1:p.Ala98Thr, NP_001257363.1:p.Ala70Thr, NP_001257362.1:p.Ala70Thr

Select item 132753649313.

rs1327536493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:123265283 (GRCh38)
12:123749830 (GRCh37)
Canonical SPDI:: NC_000012.12:123265282:C:G
Gene:: CDK2AP1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.123265283C>G, NC_000012.11:g.123749830C>G, NM_004642.4:c.193G>C, NM_004642.3:c.193G>C, NR_073008.2:n.503G>C, NR_073008.1:n.354G>C, NM_001270434.2:c.109G>C, NM_001270434.1:c.109G>C, NM_001270433.2:c.109G>C, NM_001270433.1:c.109G>C, NR_073007.2:n.222G>C, NR_073007.1:n.298G>C, NP_004633.1:p.Glu65Gln, NP_001257363.1:p.Glu37Gln, NP_001257362.1:p.Glu37Gln

Select item 131016800414.

rs1310168004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123265241 (GRCh38)
12:123749788 (GRCh37)
Canonical SPDI:: NC_000012.12:123265240:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123265241G>A, NC_000012.11:g.123749788G>A, NM_004642.4:c.235C>T, NM_004642.3:c.235C>T, NR_073008.2:n.545C>T, NR_073008.1:n.396C>T, NM_001270434.2:c.151C>T, NM_001270434.1:c.151C>T, NM_001270433.2:c.151C>T, NM_001270433.1:c.151C>T, NR_073007.2:n.264C>T, NR_073007.1:n.340C>T, NP_004633.1:p.Pro79Ser, NP_001257363.1:p.Pro51Ser, NP_001257362.1:p.Pro51Ser

Select item 130397300815.

rs1303973008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123265257 (GRCh38)
12:123749804 (GRCh37)
Canonical SPDI:: NC_000012.12:123265256:C:T
Gene:: CDK2AP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123265257C>T, NC_000012.11:g.123749804C>T, NM_004642.4:c.219G>A, NM_004642.3:c.219G>A, NR_073008.2:n.529G>A, NR_073008.1:n.380G>A, NM_001270434.2:c.135G>A, NM_001270434.1:c.135G>A, NM_001270433.2:c.135G>A, NM_001270433.1:c.135G>A, NR_073007.2:n.248G>A, NR_073007.1:n.324G>A

Select item 128714261616.

rs1287142616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123267199 (GRCh38)
12:123751746 (GRCh37)
Canonical SPDI:: NC_000012.12:123267198:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.123267199G>A, NC_000012.11:g.123751746G>A, NM_004642.4:c.139C>T, NM_004642.3:c.139C>T, NR_073008.2:n.449C>T, NR_073008.1:n.300C>T, NM_001270434.2:c.55C>T, NM_001270434.1:c.55C>T, NM_001270433.2:c.55C>T, NM_001270433.1:c.55C>T, NR_073007.2:n.168C>T, NR_073007.1:n.244C>T

Select item 128683944717.

rs1286839447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123261783 (GRCh38)
12:123746330 (GRCh37)
Canonical SPDI:: NC_000012.12:123261782:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.123261783G>A, NC_000012.11:g.123746330G>A, NM_004642.4:c.301C>T, NM_004642.3:c.301C>T, NR_073008.2:n.611C>T, NR_073008.1:n.462C>T, NM_001270434.2:c.217C>T, NM_001270434.1:c.217C>T, NM_001270433.2:c.217C>T, NM_001270433.1:c.217C>T, NR_073007.2:n.330C>T, NR_073007.1:n.406C>T

Select item 127299294418.

rs1272992944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:123265201 (GRCh38)
12:123749748 (GRCh37)
Canonical SPDI:: NC_000012.12:123265200:T:C
Gene:: CDK2AP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.123265201T>C, NC_000012.11:g.123749748T>C, NM_004642.4:c.275A>G, NM_004642.3:c.275A>G, NR_073008.2:n.585A>G, NR_073008.1:n.436A>G, NM_001270434.2:c.191A>G, NM_001270434.1:c.191A>G, NM_001270433.2:c.191A>G, NM_001270433.1:c.191A>G, NR_073007.2:n.304A>G, NR_073007.1:n.380A>G, NP_004633.1:p.Lys92Arg, NP_001257363.1:p.Lys64Arg, NP_001257362.1:p.Lys64Arg

Select item 127147256619.

rs1271472566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123267204 (GRCh38)
12:123751751 (GRCh37)
Canonical SPDI:: NC_000012.12:123267203:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.123267204G>A, NC_000012.11:g.123751751G>A, NM_004642.4:c.134C>T, NM_004642.3:c.134C>T, NR_073008.2:n.444C>T, NR_073008.1:n.295C>T, NM_001270434.2:c.50C>T, NM_001270434.1:c.50C>T, NM_001270433.2:c.50C>T, NM_001270433.1:c.50C>T, NR_073007.2:n.163C>T, NR_073007.1:n.239C>T, NP_004633.1:p.Pro45Leu, NP_001257363.1:p.Pro17Leu, NP_001257362.1:p.Pro17Leu

Select item 126702354020.

rs1267023540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:123261763 (GRCh38)
12:123746310 (GRCh37)
Canonical SPDI:: NC_000012.12:123261762:T:G
Gene:: CDK2AP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.123261763T>G, NC_000012.11:g.123746310T>G, NM_004642.4:c.321A>C, NM_004642.3:c.321A>C, NR_073008.2:n.631A>C, NR_073008.1:n.482A>C, NM_001270434.2:c.237A>C, NM_001270434.1:c.237A>C, NM_001270433.2:c.237A>C, NM_001270433.1:c.237A>C, NR_073007.2:n.350A>C, NR_073007.1:n.426A>C

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