SNP Links for Protein (Select 768033222) - SNP

Links from Protein

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Select item 14873770261.

rs1487377026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47223719 (GRCh38)
X:47083118 (GRCh37)
Canonical SPDI:: NC_000023.11:47223718:G:A
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47223719G>A, NC_000023.10:g.47083118G>A, NG_012517.2:g.10591G>A, NM_006201.5:c.162G>A, NM_006201.4:c.162G>A, NM_033018.4:c.180G>A, NM_033018.3:c.180G>A, NM_001170460.2:c.384G>A, NM_001170460.1:c.384G>A, XM_011543920.4:c.384G>A, XM_011543920.3:c.384G>A, XM_011543920.2:c.384G>A, XM_011543920.1:c.384G>A, XM_011543925.3:c.162G>A, XM_011543925.2:c.162G>A, XM_011543925.1:c.162G>A, XM_011543924.3:c.162G>A, XM_011543924.2:c.162G>A, XM_011543924.1:c.162G>A, XM_011543923.3:c.180G>A, XM_011543923.2:c.180G>A, XM_011543923.1:c.180G>A, XM_011543926.2:c.162G>A, XM_011543926.1:c.162G>A, XM_017029569.2:c.303G>A, XM_017029569.1:c.303G>A, XM_011543921.2:c.303G>A, XM_011543921.1:c.303G>A, XM_011543922.2:c.291G>A, XM_011543922.1:c.291G>A, XM_047442152.1:c.291G>A, XM_047442154.1:c.162G>A, XM_047442153.1:c.384G>A

Select item 14839637542.

rs1483963754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47223705 (GRCh38)
X:47083104 (GRCh37)
Canonical SPDI:: NC_000023.11:47223704:C:T
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000102/2 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47223705C>T, NC_000023.10:g.47083104C>T, NG_012517.2:g.10577C>T, NM_006201.5:c.148C>T, NM_006201.4:c.148C>T, NM_033018.4:c.166C>T, NM_033018.3:c.166C>T, NM_001170460.2:c.370C>T, NM_001170460.1:c.370C>T, XM_011543920.4:c.370C>T, XM_011543920.3:c.370C>T, XM_011543920.2:c.370C>T, XM_011543920.1:c.370C>T, XM_011543925.3:c.148C>T, XM_011543925.2:c.148C>T, XM_011543925.1:c.148C>T, XM_011543924.3:c.148C>T, XM_011543924.2:c.148C>T, XM_011543924.1:c.148C>T, XM_011543923.3:c.166C>T, XM_011543923.2:c.166C>T, XM_011543923.1:c.166C>T, XM_011543926.2:c.148C>T, XM_011543926.1:c.148C>T, XM_017029569.2:c.289C>T, XM_017029569.1:c.289C>T, XM_011543921.2:c.289C>T, XM_011543921.1:c.289C>T, XM_011543922.2:c.277C>T, XM_011543922.1:c.277C>T, XM_047442152.1:c.277C>T, XM_047442154.1:c.148C>T, XM_047442153.1:c.370C>T, NP_006192.1:p.Arg50Cys, NP_148978.2:p.Arg56Cys, NP_001163931.1:p.Arg124Cys, XP_011542222.1:p.Arg124Cys, XP_011542227.1:p.Arg50Cys, XP_011542226.1:p.Arg50Cys, XP_011542225.1:p.Arg56Cys, XP_011542228.1:p.Arg50Cys, XP_016885058.1:p.Arg97Cys, XP_011542223.1:p.Arg97Cys, XP_011542224.1:p.Arg93Cys, XP_047298108.1:p.Arg93Cys, XP_047298110.1:p.Arg50Cys, XP_047298109.1:p.Arg124Cys

Select item 14832824973.

rs1483282497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:47223602 (GRCh38)
X:47083001 (GRCh37)
Canonical SPDI:: NC_000023.11:47223601:C:A
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47223602C>A, NC_000023.10:g.47083001C>A, NG_012517.2:g.10474C>A, NM_006201.5:c.45C>A, NM_006201.4:c.45C>A, NM_033018.4:c.63C>A, NM_033018.3:c.63C>A, NM_001170460.2:c.267C>A, NM_001170460.1:c.267C>A, XM_011543920.4:c.267C>A, XM_011543920.3:c.267C>A, XM_011543920.2:c.267C>A, XM_011543920.1:c.267C>A, XM_011543925.3:c.45C>A, XM_011543925.2:c.45C>A, XM_011543925.1:c.45C>A, XM_011543924.3:c.45C>A, XM_011543924.2:c.45C>A, XM_011543924.1:c.45C>A, XM_011543923.3:c.63C>A, XM_011543923.2:c.63C>A, XM_011543923.1:c.63C>A, XM_011543926.2:c.45C>A, XM_011543926.1:c.45C>A, XM_017029569.2:c.186C>A, XM_017029569.1:c.186C>A, XM_011543921.2:c.186C>A, XM_011543921.1:c.186C>A, XM_011543922.2:c.174C>A, XM_011543922.1:c.174C>A, XM_047442152.1:c.174C>A, XM_047442154.1:c.45C>A, XM_047442153.1:c.267C>A

Select item 14764714864.

rs1476471486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47226902 (GRCh38)
X:47086301 (GRCh37)
Canonical SPDI:: NC_000023.11:47226901:T:C
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.47226902T>C, NC_000023.10:g.47086301T>C, NG_012517.2:g.13774T>C, NM_006201.5:c.1128T>C, NM_006201.4:c.1128T>C, NM_033018.4:c.1146T>C, NM_033018.3:c.1146T>C, NM_001170460.2:c.1350T>C, NM_001170460.1:c.1350T>C, XM_011543920.4:c.1350T>C, XM_011543920.3:c.1350T>C, XM_011543920.2:c.1350T>C, XM_011543920.1:c.1350T>C, XM_011543925.3:c.1128T>C, XM_011543925.2:c.1128T>C, XM_011543925.1:c.1128T>C, XM_011543924.3:c.1128T>C, XM_011543924.2:c.1128T>C, XM_011543924.1:c.1128T>C, XM_011543923.3:c.1146T>C, XM_011543923.2:c.1146T>C, XM_011543923.1:c.1146T>C, XM_011543926.2:c.1128T>C, XM_011543926.1:c.1128T>C, XM_017029569.2:c.1269T>C, XM_017029569.1:c.1269T>C, XM_011543921.2:c.1269T>C, XM_011543921.1:c.1269T>C, XM_011543922.2:c.1257T>C, XM_011543922.1:c.1257T>C, XM_047442152.1:c.1257T>C, NM_033019.1:c.984T>C

Select item 14740539055.

rs1474053905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47227382 (GRCh38)
X:47086781 (GRCh37)
Canonical SPDI:: NC_000023.11:47227381:G:A
Gene:: CDK16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000223/2 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47227382G>A, NC_000023.10:g.47086781G>A, NG_012517.2:g.14254G>A, NM_006201.5:c.1288G>A, NM_006201.4:c.1288G>A, NM_033018.4:c.1306G>A, NM_033018.3:c.1306G>A, NM_001170460.2:c.1510G>A, NM_001170460.1:c.1510G>A, XM_011543920.4:c.1510G>A, XM_011543920.3:c.1510G>A, XM_011543920.2:c.1510G>A, XM_011543920.1:c.1510G>A, XM_011543925.3:c.1288G>A, XM_011543925.2:c.1288G>A, XM_011543925.1:c.1288G>A, XM_011543924.3:c.1288G>A, XM_011543924.2:c.1288G>A, XM_011543924.1:c.1288G>A, XM_011543923.3:c.1306G>A, XM_011543923.2:c.1306G>A, XM_011543923.1:c.1306G>A, XM_011543926.2:c.1288G>A, XM_011543926.1:c.1288G>A, XM_017029569.2:c.1429G>A, XM_017029569.1:c.1429G>A, XM_011543921.2:c.1429G>A, XM_011543921.1:c.1429G>A, XM_011543922.2:c.1417G>A, XM_011543922.1:c.1417G>A, XM_047442152.1:c.1417G>A, NM_033019.1:c.1144G>A, NP_006192.1:p.Glu430Lys, NP_148978.2:p.Glu436Lys, NP_001163931.1:p.Glu504Lys, XP_011542222.1:p.Glu504Lys, XP_011542227.1:p.Glu430Lys, XP_011542226.1:p.Glu430Lys, XP_011542225.1:p.Glu436Lys, XP_011542228.1:p.Glu430Lys, XP_016885058.1:p.Glu477Lys, XP_011542223.1:p.Glu477Lys, XP_011542224.1:p.Glu473Lys, XP_047298108.1:p.Glu473Lys

Select item 14717714926.

rs1471771492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47225831 (GRCh38)
X:47085230 (GRCh37)
Canonical SPDI:: NC_000023.11:47225830:A:G
Gene:: CDK16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47225831A>G, NC_000023.10:g.47085230A>G, NG_012517.2:g.12703A>G, NM_006201.5:c.694A>G, NM_006201.4:c.694A>G, NM_033018.4:c.712A>G, NM_033018.3:c.712A>G, NM_001170460.2:c.916A>G, NM_001170460.1:c.916A>G, XM_011543920.4:c.916A>G, XM_011543920.3:c.916A>G, XM_011543920.2:c.916A>G, XM_011543920.1:c.916A>G, XM_011543925.3:c.694A>G, XM_011543925.2:c.694A>G, XM_011543925.1:c.694A>G, XM_011543924.3:c.694A>G, XM_011543924.2:c.694A>G, XM_011543924.1:c.694A>G, XM_011543923.3:c.712A>G, XM_011543923.2:c.712A>G, XM_011543923.1:c.712A>G, XM_011543926.2:c.694A>G, XM_011543926.1:c.694A>G, XM_017029569.2:c.835A>G, XM_017029569.1:c.835A>G, XM_011543921.2:c.835A>G, XM_011543921.1:c.835A>G, XM_011543922.2:c.823A>G, XM_011543922.1:c.823A>G, XM_047442152.1:c.823A>G, NM_033019.1:c.550A>G, XM_047442154.1:c.694A>G, XM_047442153.1:c.916A>G, NP_006192.1:p.Thr232Ala, NP_148978.2:p.Thr238Ala, NP_001163931.1:p.Thr306Ala, XP_011542222.1:p.Thr306Ala, XP_011542227.1:p.Thr232Ala, XP_011542226.1:p.Thr232Ala, XP_011542225.1:p.Thr238Ala, XP_011542228.1:p.Thr232Ala, XP_016885058.1:p.Thr279Ala, XP_011542223.1:p.Thr279Ala, XP_011542224.1:p.Thr275Ala, XP_047298108.1:p.Thr275Ala, XP_047298110.1:p.Thr232Ala, XP_047298109.1:p.Thr306Ala

Select item 14702213847.

rs1470221384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47226371 (GRCh38)
X:47085770 (GRCh37)
Canonical SPDI:: NC_000023.11:47226370:C:T
Gene:: CDK16 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47226371C>T, NC_000023.10:g.47085770C>T, NG_012517.2:g.13243C>T, NM_006201.5:c.885C>T, NM_006201.4:c.885C>T, NM_033018.4:c.903C>T, NM_033018.3:c.903C>T, NM_001170460.2:c.1107C>T, NM_001170460.1:c.1107C>T, XM_011543920.4:c.1107C>T, XM_011543920.3:c.1107C>T, XM_011543920.2:c.1107C>T, XM_011543920.1:c.1107C>T, XM_011543925.3:c.885C>T, XM_011543925.2:c.885C>T, XM_011543925.1:c.885C>T, XM_011543924.3:c.885C>T, XM_011543924.2:c.885C>T, XM_011543924.1:c.885C>T, XM_011543923.3:c.903C>T, XM_011543923.2:c.903C>T, XM_011543923.1:c.903C>T, XM_011543926.2:c.885C>T, XM_011543926.1:c.885C>T, XM_017029569.2:c.1026C>T, XM_017029569.1:c.1026C>T, XM_011543921.2:c.1026C>T, XM_011543921.1:c.1026C>T, XM_011543922.2:c.1014C>T, XM_011543922.1:c.1014C>T, XM_047442152.1:c.1014C>T, NM_033019.1:c.741C>T

Select item 14694365338.

rs1469436533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47226700 (GRCh38)
X:47086099 (GRCh37)
Canonical SPDI:: NC_000023.11:47226699:T:C
Gene:: CDK16 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47226700T>C, NC_000023.10:g.47086099T>C, NG_012517.2:g.13572T>C, NM_006201.5:c.1034T>C, NM_006201.4:c.1034T>C, NM_033018.4:c.1052T>C, NM_033018.3:c.1052T>C, NM_001170460.2:c.1256T>C, NM_001170460.1:c.1256T>C, XM_011543920.4:c.1256T>C, XM_011543920.3:c.1256T>C, XM_011543920.2:c.1256T>C, XM_011543920.1:c.1256T>C, XM_011543925.3:c.1034T>C, XM_011543925.2:c.1034T>C, XM_011543925.1:c.1034T>C, XM_011543924.3:c.1034T>C, XM_011543924.2:c.1034T>C, XM_011543924.1:c.1034T>C, XM_011543923.3:c.1052T>C, XM_011543923.2:c.1052T>C, XM_011543923.1:c.1052T>C, XM_011543926.2:c.1034T>C, XM_011543926.1:c.1034T>C, XM_017029569.2:c.1175T>C, XM_017029569.1:c.1175T>C, XM_011543921.2:c.1175T>C, XM_011543921.1:c.1175T>C, XM_011543922.2:c.1163T>C, XM_011543922.1:c.1163T>C, XM_047442152.1:c.1163T>C, NM_033019.1:c.890T>C, XM_047442154.1:c.*64T>C, XM_047442153.1:c.*64T>C, NP_006192.1:p.Met345Thr, NP_148978.2:p.Met351Thr, NP_001163931.1:p.Met419Thr, XP_011542222.1:p.Met419Thr, XP_011542227.1:p.Met345Thr, XP_011542226.1:p.Met345Thr, XP_011542225.1:p.Met351Thr, XP_011542228.1:p.Met345Thr, XP_016885058.1:p.Met392Thr, XP_011542223.1:p.Met392Thr, XP_011542224.1:p.Met388Thr, XP_047298108.1:p.Met388Thr

Select item 14678975889.

rs1467897588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47227087 (GRCh38)
X:47086486 (GRCh37)
Canonical SPDI:: NC_000023.11:47227086:G:A
Gene:: CDK16 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47227087G>A, NC_000023.10:g.47086486G>A, NG_012517.2:g.13959G>A, NM_006201.5:c.1229G>A, NM_006201.4:c.1229G>A, NM_033018.4:c.1247G>A, NM_033018.3:c.1247G>A, NM_001170460.2:c.1451G>A, NM_001170460.1:c.1451G>A, XM_011543920.4:c.1451G>A, XM_011543920.3:c.1451G>A, XM_011543920.2:c.1451G>A, XM_011543920.1:c.1451G>A, XM_011543925.3:c.1229G>A, XM_011543925.2:c.1229G>A, XM_011543925.1:c.1229G>A, XM_011543924.3:c.1229G>A, XM_011543924.2:c.1229G>A, XM_011543924.1:c.1229G>A, XM_011543923.3:c.1247G>A, XM_011543923.2:c.1247G>A, XM_011543923.1:c.1247G>A, XM_011543926.2:c.1229G>A, XM_011543926.1:c.1229G>A, XM_017029569.2:c.1370G>A, XM_017029569.1:c.1370G>A, XM_011543921.2:c.1370G>A, XM_011543921.1:c.1370G>A, XM_011543922.2:c.1358G>A, XM_011543922.1:c.1358G>A, XM_047442152.1:c.1358G>A, NM_033019.1:c.1085G>A, NP_006192.1:p.Ser410Asn, NP_148978.2:p.Ser416Asn, NP_001163931.1:p.Ser484Asn, XP_011542222.1:p.Ser484Asn, XP_011542227.1:p.Ser410Asn, XP_011542226.1:p.Ser410Asn, XP_011542225.1:p.Ser416Asn, XP_011542228.1:p.Ser410Asn, XP_016885058.1:p.Ser457Asn, XP_011542223.1:p.Ser457Asn, XP_011542224.1:p.Ser453Asn, XP_047298108.1:p.Ser453Asn

Select item 146633075110.

rs1466330751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47224444 (GRCh38)
X:47083843 (GRCh37)
Canonical SPDI:: NC_000023.11:47224443:A:G
Gene:: CDK16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47224444A>G, NC_000023.10:g.47083843A>G, NG_012517.2:g.11316A>G, NM_006201.5:c.262A>G, NM_006201.4:c.262A>G, NM_033018.4:c.280A>G, NM_033018.3:c.280A>G, NM_001170460.2:c.484A>G, NM_001170460.1:c.484A>G, XM_011543920.4:c.484A>G, XM_011543920.3:c.484A>G, XM_011543920.2:c.484A>G, XM_011543920.1:c.484A>G, XM_011543925.3:c.262A>G, XM_011543925.2:c.262A>G, XM_011543925.1:c.262A>G, XM_011543924.3:c.262A>G, XM_011543924.2:c.262A>G, XM_011543924.1:c.262A>G, XM_011543923.3:c.280A>G, XM_011543923.2:c.280A>G, XM_011543923.1:c.280A>G, XM_011543926.2:c.262A>G, XM_011543926.1:c.262A>G, XM_017029569.2:c.403A>G, XM_017029569.1:c.403A>G, XM_011543921.2:c.403A>G, XM_011543921.1:c.403A>G, XM_011543922.2:c.391A>G, XM_011543922.1:c.391A>G, XM_047442152.1:c.391A>G, NM_033019.1:c.118A>G, XM_047442154.1:c.262A>G, XM_047442153.1:c.484A>G, NP_006192.1:p.Thr88Ala, NP_148978.2:p.Thr94Ala, NP_001163931.1:p.Thr162Ala, XP_011542222.1:p.Thr162Ala, XP_011542227.1:p.Thr88Ala, XP_011542226.1:p.Thr88Ala, XP_011542225.1:p.Thr94Ala, XP_011542228.1:p.Thr88Ala, XP_016885058.1:p.Thr135Ala, XP_011542223.1:p.Thr135Ala, XP_011542224.1:p.Thr131Ala, XP_047298108.1:p.Thr131Ala, XP_047298110.1:p.Thr88Ala, XP_047298109.1:p.Thr162Ala

Select item 146581627011.

rs1465816270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47223667 (GRCh38)
X:47083066 (GRCh37)
Canonical SPDI:: NC_000023.11:47223666:G:A
Gene:: CDK16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47223667G>A, NC_000023.10:g.47083066G>A, NG_012517.2:g.10539G>A, NM_006201.5:c.110G>A, NM_006201.4:c.110G>A, NM_033018.4:c.128G>A, NM_033018.3:c.128G>A, NM_001170460.2:c.332G>A, NM_001170460.1:c.332G>A, XM_011543920.4:c.332G>A, XM_011543920.3:c.332G>A, XM_011543920.2:c.332G>A, XM_011543920.1:c.332G>A, XM_011543925.3:c.110G>A, XM_011543925.2:c.110G>A, XM_011543925.1:c.110G>A, XM_011543924.3:c.110G>A, XM_011543924.2:c.110G>A, XM_011543924.1:c.110G>A, XM_011543923.3:c.128G>A, XM_011543923.2:c.128G>A, XM_011543923.1:c.128G>A, XM_011543926.2:c.110G>A, XM_011543926.1:c.110G>A, XM_017029569.2:c.251G>A, XM_017029569.1:c.251G>A, XM_011543921.2:c.251G>A, XM_011543921.1:c.251G>A, XM_011543922.2:c.239G>A, XM_011543922.1:c.239G>A, XM_047442152.1:c.239G>A, XM_047442154.1:c.110G>A, XM_047442153.1:c.332G>A, NP_006192.1:p.Gly37Asp, NP_148978.2:p.Gly43Asp, NP_001163931.1:p.Gly111Asp, XP_011542222.1:p.Gly111Asp, XP_011542227.1:p.Gly37Asp, XP_011542226.1:p.Gly37Asp, XP_011542225.1:p.Gly43Asp, XP_011542228.1:p.Gly37Asp, XP_016885058.1:p.Gly84Asp, XP_011542223.1:p.Gly84Asp, XP_011542224.1:p.Gly80Asp, XP_047298108.1:p.Gly80Asp, XP_047298110.1:p.Gly37Asp, XP_047298109.1:p.Gly111Asp

Select item 146558272512.

rs1465582725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47225842 (GRCh38)
X:47085241 (GRCh37)
Canonical SPDI:: NC_000023.11:47225841:C:T
Gene:: CDK16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47225842C>T, NC_000023.10:g.47085241C>T, NG_012517.2:g.12714C>T, NM_006201.5:c.705C>T, NM_006201.4:c.705C>T, NM_033018.4:c.723C>T, NM_033018.3:c.723C>T, NM_001170460.2:c.927C>T, NM_001170460.1:c.927C>T, XM_011543920.4:c.927C>T, XM_011543920.3:c.927C>T, XM_011543920.2:c.927C>T, XM_011543920.1:c.927C>T, XM_011543925.3:c.705C>T, XM_011543925.2:c.705C>T, XM_011543925.1:c.705C>T, XM_011543924.3:c.705C>T, XM_011543924.2:c.705C>T, XM_011543924.1:c.705C>T, XM_011543923.3:c.723C>T, XM_011543923.2:c.723C>T, XM_011543923.1:c.723C>T, XM_011543926.2:c.705C>T, XM_011543926.1:c.705C>T, XM_017029569.2:c.846C>T, XM_017029569.1:c.846C>T, XM_011543921.2:c.846C>T, XM_011543921.1:c.846C>T, XM_011543922.2:c.834C>T, XM_011543922.1:c.834C>T, XM_047442152.1:c.834C>T, NM_033019.1:c.561C>T, XM_047442154.1:c.705C>T, XM_047442153.1:c.927C>T

Select item 146318630213.

rs1463186302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47225059 (GRCh38)
X:47084458 (GRCh37)
Canonical SPDI:: NC_000023.11:47225058:A:G
Gene:: CDK16 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47225059A>G, NC_000023.10:g.47084458A>G, NG_012517.2:g.11931A>G, NM_006201.5:c.591A>G, NM_006201.4:c.591A>G, NM_033018.4:c.609A>G, NM_033018.3:c.609A>G, NM_001170460.2:c.813A>G, NM_001170460.1:c.813A>G, XM_011543920.4:c.813A>G, XM_011543920.3:c.813A>G, XM_011543920.2:c.813A>G, XM_011543920.1:c.813A>G, XM_011543925.3:c.591A>G, XM_011543925.2:c.591A>G, XM_011543925.1:c.591A>G, XM_011543924.3:c.591A>G, XM_011543924.2:c.591A>G, XM_011543924.1:c.591A>G, XM_011543923.3:c.609A>G, XM_011543923.2:c.609A>G, XM_011543923.1:c.609A>G, XM_011543926.2:c.591A>G, XM_011543926.1:c.591A>G, XM_017029569.2:c.732A>G, XM_017029569.1:c.732A>G, XM_011543921.2:c.732A>G, XM_011543921.1:c.732A>G, XM_011543922.2:c.720A>G, XM_011543922.1:c.720A>G, XM_047442152.1:c.720A>G, NM_033019.1:c.447A>G, XM_047442154.1:c.591A>G, XM_047442153.1:c.813A>G

Select item 145584762314.

rs1455847623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:47228602 (GRCh38)
X:47088001 (GRCh37)
Canonical SPDI:: NC_000023.11:47228601:C:A
Gene:: CDK16 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.47228602C>A, NC_000023.10:g.47088001C>A, NG_012517.2:g.15474C>A, NM_006201.5:c.1411C>A, NM_006201.4:c.1411C>A, NM_033018.4:c.1429C>A, NM_033018.3:c.1429C>A, NM_001170460.2:c.1633C>A, NM_001170460.1:c.1633C>A, NG_012546.1:g.688C>A, XM_011543920.4:c.1633C>A, XM_011543920.3:c.1633C>A, XM_011543920.2:c.1633C>A, XM_011543920.1:c.1633C>A, XM_011543925.3:c.1411C>A, XM_011543925.2:c.1411C>A, XM_011543925.1:c.1411C>A, XM_011543924.3:c.1411C>A, XM_011543924.2:c.1411C>A, XM_011543924.1:c.1411C>A, XM_011543923.3:c.1429C>A, XM_011543923.2:c.1429C>A, XM_011543923.1:c.1429C>A, XM_011543926.2:c.1411C>A, XM_011543926.1:c.1411C>A, XM_017029569.2:c.1552C>A, XM_017029569.1:c.1552C>A, XM_011543921.2:c.1552C>A, XM_011543921.1:c.1552C>A, XM_011543922.2:c.1540C>A, XM_011543922.1:c.1540C>A, XM_047442152.1:c.1540C>A, NM_033019.1:c.1267C>A, NP_006192.1:p.Gln471Lys, NP_148978.2:p.Gln477Lys, NP_001163931.1:p.Gln545Lys, XP_011542222.1:p.Gln545Lys, XP_011542227.1:p.Gln471Lys, XP_011542226.1:p.Gln471Lys, XP_011542225.1:p.Gln477Lys, XP_011542228.1:p.Gln471Lys, XP_016885058.1:p.Gln518Lys, XP_011542223.1:p.Gln518Lys, XP_011542224.1:p.Gln514Lys, XP_047298108.1:p.Gln514Lys

Select item 145166916715.

rs1451669167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47226905 (GRCh38)
X:47086304 (GRCh37)
Canonical SPDI:: NC_000023.11:47226904:C:T
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47226905C>T, NC_000023.10:g.47086304C>T, NG_012517.2:g.13777C>T, NM_006201.5:c.1131C>T, NM_006201.4:c.1131C>T, NM_033018.4:c.1149C>T, NM_033018.3:c.1149C>T, NM_001170460.2:c.1353C>T, NM_001170460.1:c.1353C>T, XM_011543920.4:c.1353C>T, XM_011543920.3:c.1353C>T, XM_011543920.2:c.1353C>T, XM_011543920.1:c.1353C>T, XM_011543925.3:c.1131C>T, XM_011543925.2:c.1131C>T, XM_011543925.1:c.1131C>T, XM_011543924.3:c.1131C>T, XM_011543924.2:c.1131C>T, XM_011543924.1:c.1131C>T, XM_011543923.3:c.1149C>T, XM_011543923.2:c.1149C>T, XM_011543923.1:c.1149C>T, XM_011543926.2:c.1131C>T, XM_011543926.1:c.1131C>T, XM_017029569.2:c.1272C>T, XM_017029569.1:c.1272C>T, XM_011543921.2:c.1272C>T, XM_011543921.1:c.1272C>T, XM_011543922.2:c.1260C>T, XM_011543922.1:c.1260C>T, XM_047442152.1:c.1260C>T, NM_033019.1:c.987C>T

Select item 145092734916.

rs1450927349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47228581 (GRCh38)
X:47087980 (GRCh37)
Canonical SPDI:: NC_000023.11:47228580:G:A
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47228581G>A, NC_000023.10:g.47087980G>A, NG_012517.2:g.15453G>A, NM_006201.5:c.1390G>A, NM_006201.4:c.1390G>A, NM_033018.4:c.1408G>A, NM_033018.3:c.1408G>A, NM_001170460.2:c.1612G>A, NM_001170460.1:c.1612G>A, NG_012546.1:g.667G>A, XM_011543920.4:c.1612G>A, XM_011543920.3:c.1612G>A, XM_011543920.2:c.1612G>A, XM_011543920.1:c.1612G>A, XM_011543925.3:c.1390G>A, XM_011543925.2:c.1390G>A, XM_011543925.1:c.1390G>A, XM_011543924.3:c.1390G>A, XM_011543924.2:c.1390G>A, XM_011543924.1:c.1390G>A, XM_011543923.3:c.1408G>A, XM_011543923.2:c.1408G>A, XM_011543923.1:c.1408G>A, XM_011543926.2:c.1390G>A, XM_011543926.1:c.1390G>A, XM_017029569.2:c.1531G>A, XM_017029569.1:c.1531G>A, XM_011543921.2:c.1531G>A, XM_011543921.1:c.1531G>A, XM_011543922.2:c.1519G>A, XM_011543922.1:c.1519G>A, XM_047442152.1:c.1519G>A, NM_033019.1:c.1246G>A, NP_006192.1:p.Ala464Thr, NP_148978.2:p.Ala470Thr, NP_001163931.1:p.Ala538Thr, XP_011542222.1:p.Ala538Thr, XP_011542227.1:p.Ala464Thr, XP_011542226.1:p.Ala464Thr, XP_011542225.1:p.Ala470Thr, XP_011542228.1:p.Ala464Thr, XP_016885058.1:p.Ala511Thr, XP_011542223.1:p.Ala511Thr, XP_011542224.1:p.Ala507Thr, XP_047298108.1:p.Ala507Thr

Select item 145019518817.

rs1450195188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:47224515 (GRCh38)
X:47083914 (GRCh37)
Canonical SPDI:: NC_000023.11:47224514:T:A,NC_000023.11:47224514:T:C
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/2 (ALFA)
HGVS:: NC_000023.11:g.47224515T>A, NC_000023.11:g.47224515T>C, NC_000023.10:g.47083914T>A, NC_000023.10:g.47083914T>C, NG_012517.2:g.11387T>A, NG_012517.2:g.11387T>C, NM_006201.5:c.333T>A, NM_006201.5:c.333T>C, NM_006201.4:c.333T>A, NM_006201.4:c.333T>C, NM_033018.4:c.351T>A, NM_033018.4:c.351T>C, NM_033018.3:c.351T>A, NM_033018.3:c.351T>C, NM_001170460.2:c.555T>A, NM_001170460.2:c.555T>C, NM_001170460.1:c.555T>A, NM_001170460.1:c.555T>C, XM_011543920.4:c.555T>A, XM_011543920.4:c.555T>C, XM_011543920.3:c.555T>A, XM_011543920.3:c.555T>C, XM_011543920.2:c.555T>A, XM_011543920.2:c.555T>C, XM_011543920.1:c.555T>A, XM_011543920.1:c.555T>C, XM_011543925.3:c.333T>A, XM_011543925.3:c.333T>C, XM_011543925.2:c.333T>A, XM_011543925.2:c.333T>C, XM_011543925.1:c.333T>A, XM_011543925.1:c.333T>C, XM_011543924.3:c.333T>A, XM_011543924.3:c.333T>C, XM_011543924.2:c.333T>A, XM_011543924.2:c.333T>C, XM_011543924.1:c.333T>A, XM_011543924.1:c.333T>C, XM_011543923.3:c.351T>A, XM_011543923.3:c.351T>C, XM_011543923.2:c.351T>A, XM_011543923.2:c.351T>C, XM_011543923.1:c.351T>A, XM_011543923.1:c.351T>C, XM_011543926.2:c.333T>A, XM_011543926.2:c.333T>C, XM_011543926.1:c.333T>A, XM_011543926.1:c.333T>C, XM_017029569.2:c.474T>A, XM_017029569.2:c.474T>C, XM_017029569.1:c.474T>A, XM_017029569.1:c.474T>C, XM_011543921.2:c.474T>A, XM_011543921.2:c.474T>C, XM_011543921.1:c.474T>A, XM_011543921.1:c.474T>C, XM_011543922.2:c.462T>A, XM_011543922.2:c.462T>C, XM_011543922.1:c.462T>A, XM_011543922.1:c.462T>C, XM_047442152.1:c.462T>A, XM_047442152.1:c.462T>C, NM_033019.1:c.189T>A, NM_033019.1:c.189T>C, XM_047442154.1:c.333T>A, XM_047442154.1:c.333T>C, XM_047442153.1:c.555T>A, XM_047442153.1:c.555T>C

Select item 144938897918.

rs1449388979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47224679 (GRCh38)
X:47084078 (GRCh37)
Canonical SPDI:: NC_000023.11:47224678:A:G
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47224679A>G, NC_000023.10:g.47084078A>G, NG_012517.2:g.11551A>G, NM_006201.5:c.398A>G, NM_006201.4:c.398A>G, NM_033018.4:c.416A>G, NM_033018.3:c.416A>G, NM_001170460.2:c.620A>G, NM_001170460.1:c.620A>G, XM_011543920.4:c.620A>G, XM_011543920.3:c.620A>G, XM_011543920.2:c.620A>G, XM_011543920.1:c.620A>G, XM_011543925.3:c.398A>G, XM_011543925.2:c.398A>G, XM_011543925.1:c.398A>G, XM_011543924.3:c.398A>G, XM_011543924.2:c.398A>G, XM_011543924.1:c.398A>G, XM_011543923.3:c.416A>G, XM_011543923.2:c.416A>G, XM_011543923.1:c.416A>G, XM_011543926.2:c.398A>G, XM_011543926.1:c.398A>G, XM_017029569.2:c.539A>G, XM_017029569.1:c.539A>G, XM_011543921.2:c.539A>G, XM_011543921.1:c.539A>G, XM_011543922.2:c.527A>G, XM_011543922.1:c.527A>G, XM_047442152.1:c.527A>G, NM_033019.1:c.254A>G, XM_047442154.1:c.398A>G, XM_047442153.1:c.620A>G, NP_006192.1:p.Lys133Arg, NP_148978.2:p.Lys139Arg, NP_001163931.1:p.Lys207Arg, XP_011542222.1:p.Lys207Arg, XP_011542227.1:p.Lys133Arg, XP_011542226.1:p.Lys133Arg, XP_011542225.1:p.Lys139Arg, XP_011542228.1:p.Lys133Arg, XP_016885058.1:p.Lys180Arg, XP_011542223.1:p.Lys180Arg, XP_011542224.1:p.Lys176Arg, XP_047298108.1:p.Lys176Arg, XP_047298110.1:p.Lys133Arg, XP_047298109.1:p.Lys207Arg

Select item 144119989419.

rs1441199894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47224490 (GRCh38)
X:47083889 (GRCh37)
Canonical SPDI:: NC_000023.11:47224489:A:G
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47224490A>G, NC_000023.10:g.47083889A>G, NG_012517.2:g.11362A>G, NM_006201.5:c.308A>G, NM_006201.4:c.308A>G, NM_033018.4:c.326A>G, NM_033018.3:c.326A>G, NM_001170460.2:c.530A>G, NM_001170460.1:c.530A>G, XM_011543920.4:c.530A>G, XM_011543920.3:c.530A>G, XM_011543920.2:c.530A>G, XM_011543920.1:c.530A>G, XM_011543925.3:c.308A>G, XM_011543925.2:c.308A>G, XM_011543925.1:c.308A>G, XM_011543924.3:c.308A>G, XM_011543924.2:c.308A>G, XM_011543924.1:c.308A>G, XM_011543923.3:c.326A>G, XM_011543923.2:c.326A>G, XM_011543923.1:c.326A>G, XM_011543926.2:c.308A>G, XM_011543926.1:c.308A>G, XM_017029569.2:c.449A>G, XM_017029569.1:c.449A>G, XM_011543921.2:c.449A>G, XM_011543921.1:c.449A>G, XM_011543922.2:c.437A>G, XM_011543922.1:c.437A>G, XM_047442152.1:c.437A>G, NM_033019.1:c.164A>G, XM_047442154.1:c.308A>G, XM_047442153.1:c.530A>G, NP_006192.1:p.Asn103Ser, NP_148978.2:p.Asn109Ser, NP_001163931.1:p.Asn177Ser, XP_011542222.1:p.Asn177Ser, XP_011542227.1:p.Asn103Ser, XP_011542226.1:p.Asn103Ser, XP_011542225.1:p.Asn109Ser, XP_011542228.1:p.Asn103Ser, XP_016885058.1:p.Asn150Ser, XP_011542223.1:p.Asn150Ser, XP_011542224.1:p.Asn146Ser, XP_047298108.1:p.Asn146Ser, XP_047298110.1:p.Asn103Ser, XP_047298109.1:p.Asn177Ser

Select item 143872040620.

rs1438720406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47224867 (GRCh38)
X:47084266 (GRCh37)
Canonical SPDI:: NC_000023.11:47224866:A:G
Gene:: CDK16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47224867A>G, NC_000023.10:g.47084266A>G, NG_012517.2:g.11739A>G, NM_006201.5:c.496A>G, NM_006201.4:c.496A>G, NM_033018.4:c.514A>G, NM_033018.3:c.514A>G, NM_001170460.2:c.718A>G, NM_001170460.1:c.718A>G, XM_011543920.4:c.718A>G, XM_011543920.3:c.718A>G, XM_011543920.2:c.718A>G, XM_011543920.1:c.718A>G, XM_011543925.3:c.496A>G, XM_011543925.2:c.496A>G, XM_011543925.1:c.496A>G, XM_011543924.3:c.496A>G, XM_011543924.2:c.496A>G, XM_011543924.1:c.496A>G, XM_011543923.3:c.514A>G, XM_011543923.2:c.514A>G, XM_011543923.1:c.514A>G, XM_011543926.2:c.496A>G, XM_011543926.1:c.496A>G, XM_017029569.2:c.637A>G, XM_017029569.1:c.637A>G, XM_011543921.2:c.637A>G, XM_011543921.1:c.637A>G, XM_011543922.2:c.625A>G, XM_011543922.1:c.625A>G, XM_047442152.1:c.625A>G, NM_033019.1:c.352A>G, XM_047442154.1:c.496A>G, XM_047442153.1:c.718A>G, NP_006192.1:p.Ile166Val, NP_148978.2:p.Ile172Val, NP_001163931.1:p.Ile240Val, XP_011542222.1:p.Ile240Val, XP_011542227.1:p.Ile166Val, XP_011542226.1:p.Ile166Val, XP_011542225.1:p.Ile172Val, XP_011542228.1:p.Ile166Val, XP_016885058.1:p.Ile213Val, XP_011542223.1:p.Ile213Val, XP_011542224.1:p.Ile209Val, XP_047298108.1:p.Ile209Val, XP_047298110.1:p.Ile166Val, XP_047298109.1:p.Ile240Val

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