SNP Links for Protein (Select 161377470) - SNP

Select item 14891737191.

rs1489173719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36437774 (GRCh38)
13:37011911 (GRCh37)
Canonical SPDI:: NC_000013.11:36437773:A:G
Gene:: CCNA1 (Varview)
Functional Consequence:: coding_sequence_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_000013.11:g.36437774A>G, NC_000013.10:g.37011911A>G, NM_003914.4:c.443A>G, NM_003914.3:c.443A>G, XM_011535294.3:c.311A>G, XM_011535294.2:c.311A>G, XM_011535294.1:c.311A>G, XM_011535295.3:c.311A>G, XM_011535295.2:c.311A>G, XM_011535295.1:c.311A>G, XM_011535296.3:c.311A>G, XM_011535296.2:c.311A>G, XM_011535296.1:c.311A>G, NM_001111045.2:c.440A>G, NM_001111045.1:c.440A>G, NM_001111046.2:c.311A>G, NM_001111046.1:c.311A>G, NM_001111047.2:c.311A>G, NM_001111047.1:c.311A>G, NP_003905.1:p.Asp148Gly, XP_011533596.1:p.Asp104Gly, XP_011533597.1:p.Asp104Gly, XP_011533598.1:p.Asp104Gly, NP_001104515.1:p.Asp147Gly, NP_001104516.1:p.Asp104Gly, NP_001104517.1:p.Asp104Gly

Select item 14852544422.

rs1485254442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:36442653 (GRCh38)
13:37016790 (GRCh37)
Canonical SPDI:: NC_000013.11:36442652:T:C
Gene:: CCNA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36442653T>C, NC_000013.10:g.37016790T>C, NM_003914.4:c.1386T>C, NM_003914.3:c.1386T>C, XM_011535294.3:c.1254T>C, XM_011535294.2:c.1254T>C, XM_011535294.1:c.1254T>C, XM_011535295.3:c.1254T>C, XM_011535295.2:c.1254T>C, XM_011535295.1:c.1254T>C, XM_011535296.3:c.1254T>C, XM_011535296.2:c.1254T>C, XM_011535296.1:c.1254T>C, NM_001111045.2:c.1383T>C, NM_001111045.1:c.1383T>C, NM_001111046.2:c.1254T>C, NM_001111046.1:c.1254T>C, NM_001111047.2:c.1254T>C, NM_001111047.1:c.1254T>C

Select item 14839322883.

rs1483932288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36438103 (GRCh38)
13:37012240 (GRCh37)
Canonical SPDI:: NC_000013.11:36438102:A:G
Gene:: CCNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000013.11:g.36438103A>G, NC_000013.10:g.37012240A>G, NM_003914.4:c.581A>G, NM_003914.3:c.581A>G, XM_011535294.3:c.449A>G, XM_011535294.2:c.449A>G, XM_011535294.1:c.449A>G, XM_011535295.3:c.449A>G, XM_011535295.2:c.449A>G, XM_011535295.1:c.449A>G, XM_011535296.3:c.449A>G, XM_011535296.2:c.449A>G, XM_011535296.1:c.449A>G, NM_001111045.2:c.578A>G, NM_001111045.1:c.578A>G, NM_001111046.2:c.449A>G, NM_001111046.1:c.449A>G, NM_001111047.2:c.449A>G, NM_001111047.1:c.449A>G, NP_003905.1:p.Gln194Arg, XP_011533596.1:p.Gln150Arg, XP_011533597.1:p.Gln150Arg, XP_011533598.1:p.Gln150Arg, NP_001104515.1:p.Gln193Arg, NP_001104516.1:p.Gln150Arg, NP_001104517.1:p.Gln150Arg

Select item 14816484484.

rs1481648448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36433064 (GRCh38)
13:37007201 (GRCh37)
Canonical SPDI:: NC_000013.11:36433063:G:A
Gene:: CCNA1 (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_000013.11:g.36433064G>A, NC_000013.10:g.37007201G>A, NM_003914.4:c.140G>A, NM_003914.3:c.140G>A, XM_011535294.3:c.8G>A, XM_011535294.2:c.8G>A, XM_011535294.1:c.8G>A, XM_011535295.3:c.8G>A, XM_011535295.2:c.8G>A, XM_011535295.1:c.8G>A, XM_011535296.3:c.8G>A, XM_011535296.2:c.8G>A, XM_011535296.1:c.8G>A, NM_001111045.2:c.137G>A, NM_001111045.1:c.137G>A, NM_001111046.2:c.8G>A, NM_001111046.1:c.8G>A, NM_001111047.2:c.8G>A, NM_001111047.1:c.8G>A, NP_003905.1:p.Cys47Tyr, XP_011533596.1:p.Cys3Tyr, XP_011533597.1:p.Cys3Tyr, XP_011533598.1:p.Cys3Tyr, NP_001104515.1:p.Cys46Tyr, NP_001104516.1:p.Cys3Tyr, NP_001104517.1:p.Cys3Tyr

Select item 14800710765.

rs1480071076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:36438697 (GRCh38)
13:37012834 (GRCh37)
Canonical SPDI:: NC_000013.11:36438696:A:T
Gene:: CCNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000013.11:g.36438697A>T, NC_000013.10:g.37012834A>T, NM_003914.4:c.723A>T, NM_003914.3:c.723A>T, XM_011535294.3:c.591A>T, XM_011535294.2:c.591A>T, XM_011535294.1:c.591A>T, XM_011535295.3:c.591A>T, XM_011535295.2:c.591A>T, XM_011535295.1:c.591A>T, XM_011535296.3:c.591A>T, XM_011535296.2:c.591A>T, XM_011535296.1:c.591A>T, NM_001111045.2:c.720A>T, NM_001111045.1:c.720A>T, NM_001111046.2:c.591A>T, NM_001111046.1:c.591A>T, NM_001111047.2:c.591A>T, NM_001111047.1:c.591A>T, NP_003905.1:p.Glu241Asp, XP_011533596.1:p.Glu197Asp, XP_011533597.1:p.Glu197Asp, XP_011533598.1:p.Glu197Asp, NP_001104515.1:p.Glu240Asp, NP_001104516.1:p.Glu197Asp, NP_001104517.1:p.Glu197Asp

Select item 14786549296.

rs1478654929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:36437701 (GRCh38)
13:37011838 (GRCh37)
Canonical SPDI:: NC_000013.11:36437700:G:C
Gene:: CCNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36437701G>C, NC_000013.10:g.37011838G>C, NM_003914.4:c.370G>C, NM_003914.3:c.370G>C, XM_011535294.3:c.238G>C, XM_011535294.2:c.238G>C, XM_011535294.1:c.238G>C, XM_011535295.3:c.238G>C, XM_011535295.2:c.238G>C, XM_011535295.1:c.238G>C, XM_011535296.3:c.238G>C, XM_011535296.2:c.238G>C, XM_011535296.1:c.238G>C, NM_001111045.2:c.367G>C, NM_001111045.1:c.367G>C, NM_001111046.2:c.238G>C, NM_001111046.1:c.238G>C, NM_001111047.2:c.238G>C, NM_001111047.1:c.238G>C, NP_003905.1:p.Asp124His, XP_011533596.1:p.Asp80His, XP_011533597.1:p.Asp80His, XP_011533598.1:p.Asp80His, NP_001104515.1:p.Asp123His, NP_001104516.1:p.Asp80His, NP_001104517.1:p.Asp80His

Select item 14703029657.

rs1470302965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:36441137 (GRCh38)
13:37015274 (GRCh37)
Canonical SPDI:: NC_000013.11:36441136:T:C
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36441137T>C, NC_000013.10:g.37015274T>C, NM_003914.4:c.1118T>C, NM_003914.3:c.1118T>C, XM_011535294.3:c.986T>C, XM_011535294.2:c.986T>C, XM_011535294.1:c.986T>C, XM_011535295.3:c.986T>C, XM_011535295.2:c.986T>C, XM_011535295.1:c.986T>C, XM_011535296.3:c.986T>C, XM_011535296.2:c.986T>C, XM_011535296.1:c.986T>C, NM_001111045.2:c.1115T>C, NM_001111045.1:c.1115T>C, NM_001111046.2:c.986T>C, NM_001111046.1:c.986T>C, NM_001111047.2:c.986T>C, NM_001111047.1:c.986T>C, NP_003905.1:p.Leu373Pro, XP_011533596.1:p.Leu329Pro, XP_011533597.1:p.Leu329Pro, XP_011533598.1:p.Leu329Pro, NP_001104515.1:p.Leu372Pro, NP_001104516.1:p.Leu329Pro, NP_001104517.1:p.Leu329Pro

Select item 14698460718.

rs1469846071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36442270 (GRCh38)
13:37016407 (GRCh37)
Canonical SPDI:: NC_000013.11:36442269:C:T
Gene:: CCNA1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36442270C>T, NC_000013.10:g.37016407C>T, NM_003914.4:c.1312C>T, NM_003914.3:c.1312C>T, XM_011535294.3:c.1180C>T, XM_011535294.2:c.1180C>T, XM_011535294.1:c.1180C>T, XM_011535295.3:c.1180C>T, XM_011535295.2:c.1180C>T, XM_011535295.1:c.1180C>T, XM_011535296.3:c.1180C>T, XM_011535296.2:c.1180C>T, XM_011535296.1:c.1180C>T, NM_001111045.2:c.1309C>T, NM_001111045.1:c.1309C>T, NM_001111046.2:c.1180C>T, NM_001111046.1:c.1180C>T, NM_001111047.2:c.1180C>T, NM_001111047.1:c.1180C>T, NP_003905.1:p.Gln438Ter, XP_011533596.1:p.Gln394Ter, XP_011533597.1:p.Gln394Ter, XP_011533598.1:p.Gln394Ter, NP_001104515.1:p.Gln437Ter, NP_001104516.1:p.Gln394Ter, NP_001104517.1:p.Gln394Ter

Select item 14648341839.

rs1464834183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36433178 (GRCh38)
13:37007315 (GRCh37)
Canonical SPDI:: NC_000013.11:36433177:G:A
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.36433178G>A, NC_000013.10:g.37007315G>A, NM_003914.4:c.254G>A, NM_003914.3:c.254G>A, XM_011535294.3:c.122G>A, XM_011535294.2:c.122G>A, XM_011535294.1:c.122G>A, XM_011535295.3:c.122G>A, XM_011535295.2:c.122G>A, XM_011535295.1:c.122G>A, XM_011535296.3:c.122G>A, XM_011535296.2:c.122G>A, XM_011535296.1:c.122G>A, NM_001111045.2:c.251G>A, NM_001111045.1:c.251G>A, NM_001111046.2:c.122G>A, NM_001111046.1:c.122G>A, NM_001111047.2:c.122G>A, NM_001111047.1:c.122G>A, NP_003905.1:p.Gly85Glu, XP_011533596.1:p.Gly41Glu, XP_011533597.1:p.Gly41Glu, XP_011533598.1:p.Gly41Glu, NP_001104515.1:p.Gly84Glu, NP_001104516.1:p.Gly41Glu, NP_001104517.1:p.Gly41Glu

Select item 146383180410.

rs1463831804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:36433201 (GRCh38)
13:37007338 (GRCh37)
Canonical SPDI:: NC_000013.11:36433200:T:C
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36433201T>C, NC_000013.10:g.37007338T>C, NM_003914.4:c.277T>C, NM_003914.3:c.277T>C, XM_011535294.3:c.145T>C, XM_011535294.2:c.145T>C, XM_011535294.1:c.145T>C, XM_011535295.3:c.145T>C, XM_011535295.2:c.145T>C, XM_011535295.1:c.145T>C, XM_011535296.3:c.145T>C, XM_011535296.2:c.145T>C, XM_011535296.1:c.145T>C, NM_001111045.2:c.274T>C, NM_001111045.1:c.274T>C, NM_001111046.2:c.145T>C, NM_001111046.1:c.145T>C, NM_001111047.2:c.145T>C, NM_001111047.1:c.145T>C, NP_003905.1:p.Tyr93His, XP_011533596.1:p.Tyr49His, XP_011533597.1:p.Tyr49His, XP_011533598.1:p.Tyr49His, NP_001104515.1:p.Tyr92His, NP_001104516.1:p.Tyr49His, NP_001104517.1:p.Tyr49His

Select item 146374500411.

rs1463745004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36438779 (GRCh38)
13:37012916 (GRCh37)
Canonical SPDI:: NC_000013.11:36438778:G:A
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36438779G>A, NC_000013.10:g.37012916G>A, NM_003914.4:c.805G>A, NM_003914.3:c.805G>A, XM_011535294.3:c.673G>A, XM_011535294.2:c.673G>A, XM_011535294.1:c.673G>A, XM_011535295.3:c.673G>A, XM_011535295.2:c.673G>A, XM_011535295.1:c.673G>A, XM_011535296.3:c.673G>A, XM_011535296.2:c.673G>A, XM_011535296.1:c.673G>A, NM_001111045.2:c.802G>A, NM_001111045.1:c.802G>A, NM_001111046.2:c.673G>A, NM_001111046.1:c.673G>A, NM_001111047.2:c.673G>A, NM_001111047.1:c.673G>A, NP_003905.1:p.Val269Ile, XP_011533596.1:p.Val225Ile, XP_011533597.1:p.Val225Ile, XP_011533598.1:p.Val225Ile, NP_001104515.1:p.Val268Ile, NP_001104516.1:p.Val225Ile, NP_001104517.1:p.Val225Ile

Select item 146224313112.

rs1462243131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36439981 (GRCh38)
13:37014118 (GRCh37)
Canonical SPDI:: NC_000013.11:36439980:A:G
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.36439981A>G, NC_000013.10:g.37014118A>G, NM_003914.4:c.896A>G, NM_003914.3:c.896A>G, XM_011535294.3:c.764A>G, XM_011535294.2:c.764A>G, XM_011535294.1:c.764A>G, XM_011535295.3:c.764A>G, XM_011535295.2:c.764A>G, XM_011535295.1:c.764A>G, XM_011535296.3:c.764A>G, XM_011535296.2:c.764A>G, XM_011535296.1:c.764A>G, NM_001111045.2:c.893A>G, NM_001111045.1:c.893A>G, NM_001111046.2:c.764A>G, NM_001111046.1:c.764A>G, NM_001111047.2:c.764A>G, NM_001111047.1:c.764A>G, NP_003905.1:p.Lys299Arg, XP_011533596.1:p.Lys255Arg, XP_011533597.1:p.Lys255Arg, XP_011533598.1:p.Lys255Arg, NP_001104515.1:p.Lys298Arg, NP_001104516.1:p.Lys255Arg, NP_001104517.1:p.Lys255Arg

Select item 146131657613.

rs1461316576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:36442650 (GRCh38)
13:37016787 (GRCh37)
Canonical SPDI:: NC_000013.11:36442649:T:A
Gene:: CCNA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.36442650T>A, NC_000013.10:g.37016787T>A, NM_003914.4:c.1383T>A, NM_003914.3:c.1383T>A, XM_011535294.3:c.1251T>A, XM_011535294.2:c.1251T>A, XM_011535294.1:c.1251T>A, XM_011535295.3:c.1251T>A, XM_011535295.2:c.1251T>A, XM_011535295.1:c.1251T>A, XM_011535296.3:c.1251T>A, XM_011535296.2:c.1251T>A, XM_011535296.1:c.1251T>A, NM_001111045.2:c.1380T>A, NM_001111045.1:c.1380T>A, NM_001111046.2:c.1251T>A, NM_001111046.1:c.1251T>A, NM_001111047.2:c.1251T>A, NM_001111047.1:c.1251T>A

Select item 146060829514.

rs1460608295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:36442303 (GRCh38)
13:37016440 (GRCh37)
Canonical SPDI:: NC_000013.11:36442302:A:G
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36442303A>G, NC_000013.10:g.37016440A>G, NM_003914.4:c.1345A>G, NM_003914.3:c.1345A>G, XM_011535294.3:c.1213A>G, XM_011535294.2:c.1213A>G, XM_011535294.1:c.1213A>G, XM_011535295.3:c.1213A>G, XM_011535295.2:c.1213A>G, XM_011535295.1:c.1213A>G, XM_011535296.3:c.1213A>G, XM_011535296.2:c.1213A>G, XM_011535296.1:c.1213A>G, NM_001111045.2:c.1342A>G, NM_001111045.1:c.1342A>G, NM_001111046.2:c.1213A>G, NM_001111046.1:c.1213A>G, NM_001111047.2:c.1213A>G, NM_001111047.1:c.1213A>G, NP_003905.1:p.Lys449Glu, XP_011533596.1:p.Lys405Glu, XP_011533597.1:p.Lys405Glu, XP_011533598.1:p.Lys405Glu, NP_001104515.1:p.Lys448Glu, NP_001104516.1:p.Lys405Glu, NP_001104517.1:p.Lys405Glu

Select item 145554074415.

rs1455540744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:36442198 (GRCh38)
13:37016335 (GRCh37)
Canonical SPDI:: NC_000013.11:36442197:T:A
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36442198T>A, NC_000013.10:g.37016335T>A, NM_003914.4:c.1240T>A, NM_003914.3:c.1240T>A, XM_011535294.3:c.1108T>A, XM_011535294.2:c.1108T>A, XM_011535294.1:c.1108T>A, XM_011535295.3:c.1108T>A, XM_011535295.2:c.1108T>A, XM_011535295.1:c.1108T>A, XM_011535296.3:c.1108T>A, XM_011535296.2:c.1108T>A, XM_011535296.1:c.1108T>A, NM_001111045.2:c.1237T>A, NM_001111045.1:c.1237T>A, NM_001111046.2:c.1108T>A, NM_001111046.1:c.1108T>A, NM_001111047.2:c.1108T>A, NM_001111047.1:c.1108T>A, NP_003905.1:p.Tyr414Asn, XP_011533596.1:p.Tyr370Asn, XP_011533597.1:p.Tyr370Asn, XP_011533598.1:p.Tyr370Asn, NP_001104515.1:p.Tyr413Asn, NP_001104516.1:p.Tyr370Asn, NP_001104517.1:p.Tyr370Asn

Select item 145409583516.

rs1454095835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:36442227 (GRCh38)
13:37016364 (GRCh37)
Canonical SPDI:: NC_000013.11:36442226:G:A
Gene:: CCNA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36442227G>A, NC_000013.10:g.37016364G>A, NM_003914.4:c.1269G>A, NM_003914.3:c.1269G>A, XM_011535294.3:c.1137G>A, XM_011535294.2:c.1137G>A, XM_011535294.1:c.1137G>A, XM_011535295.3:c.1137G>A, XM_011535295.2:c.1137G>A, XM_011535295.1:c.1137G>A, XM_011535296.3:c.1137G>A, XM_011535296.2:c.1137G>A, XM_011535296.1:c.1137G>A, NM_001111045.2:c.1266G>A, NM_001111045.1:c.1266G>A, NM_001111046.2:c.1137G>A, NM_001111046.1:c.1137G>A, NM_001111047.2:c.1137G>A, NM_001111047.1:c.1137G>A

Select item 145272232217.

rs1452722322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:36442187 (GRCh38)
13:37016324 (GRCh37)
Canonical SPDI:: NC_000013.11:36442186:C:G
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36442187C>G, NC_000013.10:g.37016324C>G, NM_003914.4:c.1229C>G, NM_003914.3:c.1229C>G, XM_011535294.3:c.1097C>G, XM_011535294.2:c.1097C>G, XM_011535294.1:c.1097C>G, XM_011535295.3:c.1097C>G, XM_011535295.2:c.1097C>G, XM_011535295.1:c.1097C>G, XM_011535296.3:c.1097C>G, XM_011535296.2:c.1097C>G, XM_011535296.1:c.1097C>G, NM_001111045.2:c.1226C>G, NM_001111045.1:c.1226C>G, NM_001111046.2:c.1097C>G, NM_001111046.1:c.1097C>G, NM_001111047.2:c.1097C>G, NM_001111047.1:c.1097C>G, NP_003905.1:p.Ala410Gly, XP_011533596.1:p.Ala366Gly, XP_011533597.1:p.Ala366Gly, XP_011533598.1:p.Ala366Gly, NP_001104515.1:p.Ala409Gly, NP_001104516.1:p.Ala366Gly, NP_001104517.1:p.Ala366Gly

Select item 145191020818.

rs1451910208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:36437848 (GRCh38)
13:37011985 (GRCh37)
Canonical SPDI:: NC_000013.11:36437847:C:A,NC_000013.11:36437847:C:G
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.36437848C>A, NC_000013.11:g.36437848C>G, NC_000013.10:g.37011985C>A, NC_000013.10:g.37011985C>G, NM_003914.4:c.517C>A, NM_003914.4:c.517C>G, NM_003914.3:c.517C>A, NM_003914.3:c.517C>G, XM_011535294.3:c.385C>A, XM_011535294.3:c.385C>G, XM_011535294.2:c.385C>A, XM_011535294.2:c.385C>G, XM_011535294.1:c.385C>A, XM_011535294.1:c.385C>G, XM_011535295.3:c.385C>A, XM_011535295.3:c.385C>G, XM_011535295.2:c.385C>A, XM_011535295.2:c.385C>G, XM_011535295.1:c.385C>A, XM_011535295.1:c.385C>G, XM_011535296.3:c.385C>A, XM_011535296.3:c.385C>G, XM_011535296.2:c.385C>A, XM_011535296.2:c.385C>G, XM_011535296.1:c.385C>A, XM_011535296.1:c.385C>G, NM_001111045.2:c.514C>A, NM_001111045.2:c.514C>G, NM_001111045.1:c.514C>A, NM_001111045.1:c.514C>G, NM_001111046.2:c.385C>A, NM_001111046.2:c.385C>G, NM_001111046.1:c.385C>A, NM_001111046.1:c.385C>G, NM_001111047.2:c.385C>A, NM_001111047.2:c.385C>G, NM_001111047.1:c.385C>A, NM_001111047.1:c.385C>G, NP_003905.1:p.Leu173Met, NP_003905.1:p.Leu173Val, XP_011533596.1:p.Leu129Met, XP_011533596.1:p.Leu129Val, XP_011533597.1:p.Leu129Met, XP_011533597.1:p.Leu129Val, XP_011533598.1:p.Leu129Met, XP_011533598.1:p.Leu129Val, NP_001104515.1:p.Leu172Met, NP_001104515.1:p.Leu172Val, NP_001104516.1:p.Leu129Met, NP_001104516.1:p.Leu129Val, NP_001104517.1:p.Leu129Met, NP_001104517.1:p.Leu129Val

Select item 144847076819.

rs1448470768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36440070 (GRCh38)
13:37014207 (GRCh37)
Canonical SPDI:: NC_000013.11:36440069:C:T
Gene:: CCNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.36440070C>T, NC_000013.10:g.37014207C>T, NM_003914.4:c.985C>T, NM_003914.3:c.985C>T, XM_011535294.3:c.853C>T, XM_011535294.2:c.853C>T, XM_011535294.1:c.853C>T, XM_011535295.3:c.853C>T, XM_011535295.2:c.853C>T, XM_011535295.1:c.853C>T, XM_011535296.3:c.853C>T, XM_011535296.2:c.853C>T, XM_011535296.1:c.853C>T, NM_001111045.2:c.982C>T, NM_001111045.1:c.982C>T, NM_001111046.2:c.853C>T, NM_001111046.1:c.853C>T, NM_001111047.2:c.853C>T, NM_001111047.1:c.853C>T, NP_003905.1:p.His329Tyr, XP_011533596.1:p.His285Tyr, XP_011533597.1:p.His285Tyr, XP_011533598.1:p.His285Tyr, NP_001104515.1:p.His328Tyr, NP_001104516.1:p.His285Tyr, NP_001104517.1:p.His285Tyr

Select item 144589657120.

rs1445896571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:36437745 (GRCh38)
13:37011882 (GRCh37)
Canonical SPDI:: NC_000013.11:36437744:C:T
Gene:: CCNA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.36437745C>T, NC_000013.10:g.37011882C>T, NM_003914.4:c.414C>T, NM_003914.3:c.414C>T, XM_011535294.3:c.282C>T, XM_011535294.2:c.282C>T, XM_011535294.1:c.282C>T, XM_011535295.3:c.282C>T, XM_011535295.2:c.282C>T, XM_011535295.1:c.282C>T, XM_011535296.3:c.282C>T, XM_011535296.2:c.282C>T, XM_011535296.1:c.282C>T, NM_001111045.2:c.411C>T, NM_001111045.1:c.411C>T, NM_001111046.2:c.282C>T, NM_001111046.1:c.282C>T, NM_001111047.2:c.282C>T, NM_001111047.1:c.282C>T

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