SNP Links for Protein (Select 93277076) - SNP

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Links from Protein

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Select item 14858433311.

rs1485843331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:20546475 (GRCh38)
6:20546706 (GRCh37)
Canonical SPDI:: NC_000006.12:20546474:A:G
Gene:: CDKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.20546475A>G, NC_000006.11:g.20546706A>G, NG_021195.2:g.17019A>G, NM_017774.3:c.125A>G, XM_011514719.3:c.125A>G, XM_011514719.2:c.125A>G, XM_011514719.1:c.125A>G, XM_017010986.2:c.125A>G, XM_017010986.1:c.125A>G, XM_024446481.2:c.125A>G, XM_024446481.1:c.125A>G, XM_047418951.1:c.125A>G, XM_047418949.1:c.125A>G, XM_047418952.1:c.125A>G, XM_011514718.1:c.125A>G, XM_047418947.1:c.125A>G, XM_047418948.1:c.125A>G, XM_047418950.1:c.125A>G, XM_047418958.1:c.125A>G, NP_060244.2:p.Asn42Ser, XP_011513021.1:p.Asn42Ser, XP_016866475.1:p.Asn42Ser, XP_024302249.1:p.Asn42Ser, XP_047274907.1:p.Asn42Ser, XP_047274905.1:p.Asn42Ser, XP_047274908.1:p.Asn42Ser, XP_011513020.1:p.Asn42Ser, XP_047274903.1:p.Asn42Ser, XP_047274904.1:p.Asn42Ser, XP_047274906.1:p.Asn42Ser, XP_047274914.1:p.Asn42Ser

Select item 14828453382.

rs1482845338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:21201110 (GRCh38)
6:21201341 (GRCh37)
Canonical SPDI:: NC_000006.12:21201109:G:C
Gene:: CDKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.21201110G>C, NC_000006.11:g.21201341G>C, NG_021195.2:g.671654G>C, NM_017774.3:c.1384G>C, XM_047418949.1:c.1384G>C, XM_047418952.1:c.1321G>C, XM_011514718.1:c.1321G>C, XM_047418954.1:c.904G>C, XM_047418955.1:c.841G>C, NP_060244.2:p.Val462Leu, XP_047274905.1:p.Val462Leu, XP_047274908.1:p.Val441Leu, XP_011513020.1:p.Val441Leu, XP_047274910.1:p.Val302Leu, XP_047274911.1:p.Val281Leu

Select item 14826384683.

rs1482638468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:21201119 (GRCh38)
6:21201350 (GRCh37)
Canonical SPDI:: NC_000006.12:21201118:C:T
Gene:: CDKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_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)
T=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.21201119C>T, NC_000006.11:g.21201350C>T, NG_021195.2:g.671663C>T, NM_017774.3:c.1393C>T, XM_047418949.1:c.1393C>T, XM_047418952.1:c.1330C>T, XM_011514718.1:c.1330C>T, XM_047418954.1:c.913C>T, XM_047418955.1:c.850C>T, NP_060244.2:p.Pro465Ser, XP_047274905.1:p.Pro465Ser, XP_047274908.1:p.Pro444Ser, XP_011513020.1:p.Pro444Ser, XP_047274910.1:p.Pro305Ser, XP_047274911.1:p.Pro284Ser

Select item 14811557294.

rs1481155729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:21000227 (GRCh38)
6:21000458 (GRCh37)
Canonical SPDI:: NC_000006.12:21000226:G:A
Gene:: CDKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.21000227G>A, NC_000006.11:g.21000458G>A, NG_021195.2:g.470771G>A, NM_017774.3:c.910G>A, XM_011514719.3:c.910G>A, XM_011514719.2:c.910G>A, XM_011514719.1:c.910G>A, XM_017010986.2:c.910G>A, XM_017010986.1:c.910G>A, XM_024446481.2:c.910G>A, XM_024446481.1:c.910G>A, XM_047418956.1:c.52G>A, XM_047418951.1:c.910G>A, XM_047418949.1:c.910G>A, XM_047418952.1:c.910G>A, XM_011514718.1:c.910G>A, XM_047418947.1:c.910G>A, XM_047418948.1:c.910G>A, XM_047418950.1:c.910G>A, XM_047418954.1:c.430G>A, XM_047418955.1:c.430G>A, XM_047418953.1:c.430G>A, XM_047418957.1:c.52G>A, XM_047418958.1:c.743G>A, NP_060244.2:p.Glu304Lys, XP_011513021.1:p.Glu304Lys, XP_016866475.1:p.Glu304Lys, XP_024302249.1:p.Glu304Lys, XP_047274912.1:p.Glu18Lys, XP_047274907.1:p.Glu304Lys, XP_047274905.1:p.Glu304Lys, XP_047274908.1:p.Glu304Lys, XP_011513020.1:p.Glu304Lys, XP_047274903.1:p.Glu304Lys, XP_047274904.1:p.Glu304Lys, XP_047274906.1:p.Glu304Lys, XP_047274910.1:p.Glu144Lys, XP_047274911.1:p.Glu144Lys, XP_047274909.1:p.Glu144Lys, XP_047274913.1:p.Glu18Lys, XP_047274914.1:p.Gly248Glu

Select item 14805763965.

rs1480576396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:20758614 (GRCh38)
6:20758845 (GRCh37)
Canonical SPDI:: NC_000006.12:20758613:T:C
Gene:: CDKAL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000006.12:g.20758614T>C, NC_000006.11:g.20758845T>C, NG_021195.2:g.229158T>C, NM_017774.3:c.488T>C, XM_011514719.3:c.488T>C, XM_011514719.2:c.488T>C, XM_011514719.1:c.488T>C, XM_017010986.2:c.488T>C, XM_017010986.1:c.488T>C, XM_024446481.2:c.488T>C, XM_024446481.1:c.488T>C, XM_047418951.1:c.488T>C, XM_047418949.1:c.488T>C, XM_047418952.1:c.488T>C, XM_011514718.1:c.488T>C, XM_047418947.1:c.488T>C, XM_047418948.1:c.488T>C, XM_047418950.1:c.488T>C, XM_047418958.1:c.488T>C, NP_060244.2:p.Val163Ala, XP_011513021.1:p.Val163Ala, XP_016866475.1:p.Val163Ala, XP_024302249.1:p.Val163Ala, XP_047274907.1:p.Val163Ala, XP_047274905.1:p.Val163Ala, XP_047274908.1:p.Val163Ala, XP_011513020.1:p.Val163Ala, XP_047274903.1:p.Val163Ala, XP_047274904.1:p.Val163Ala, XP_047274906.1:p.Val163Ala, XP_047274914.1:p.Val163Ala

Select item 14785689316.

rs1478568931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:21000336 (GRCh38)
6:21000567 (GRCh37)
Canonical SPDI:: NC_000006.12:21000335:C:T
Gene:: CDKAL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.21000336C>T, NC_000006.11:g.21000567C>T, NG_021195.2:g.470880C>T, NM_017774.3:c.1019C>T, XM_011514719.3:c.1019C>T, XM_011514719.2:c.1019C>T, XM_011514719.1:c.1019C>T, XM_017010986.2:c.1019C>T, XM_017010986.1:c.1019C>T, XM_024446481.2:c.1019C>T, XM_024446481.1:c.1019C>T, XM_047418956.1:c.161C>T, XM_047418951.1:c.1019C>T, XM_047418949.1:c.1019C>T, XM_047418952.1:c.1019C>T, XM_011514718.1:c.1019C>T, XM_047418947.1:c.1019C>T, XM_047418948.1:c.1019C>T, XM_047418950.1:c.1019C>T, XM_047418954.1:c.539C>T, XM_047418955.1:c.539C>T, XM_047418953.1:c.539C>T, XM_047418957.1:c.161C>T, XM_047418958.1:c.*90C>T, NP_060244.2:p.Ala340Val, XP_011513021.1:p.Ala340Val, XP_016866475.1:p.Ala340Val, XP_024302249.1:p.Ala340Val, XP_047274912.1:p.Ala54Val, XP_047274907.1:p.Ala340Val, XP_047274905.1:p.Ala340Val, XP_047274908.1:p.Ala340Val, XP_011513020.1:p.Ala340Val, XP_047274903.1:p.Ala340Val, XP_047274904.1:p.Ala340Val, XP_047274906.1:p.Ala340Val, XP_047274910.1:p.Ala180Val, XP_047274911.1:p.Ala180Val, XP_047274909.1:p.Ala180Val, XP_047274913.1:p.Ala54Val

Select item 14728452567.

rs1472845256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:20846164 (GRCh38)
6:20846395 (GRCh37)
Canonical SPDI:: NC_000006.12:20846163:A:G
Gene:: CDKAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20846164A>G, NC_000006.11:g.20846395A>G, NG_021195.2:g.316708A>G, NM_017774.3:c.728A>G, XM_011514719.3:c.728A>G, XM_011514719.2:c.728A>G, XM_011514719.1:c.728A>G, XM_017010986.2:c.728A>G, XM_017010986.1:c.728A>G, XM_024446481.2:c.728A>G, XM_024446481.1:c.728A>G, XM_047418956.1:c.-131A>G, XM_047418951.1:c.728A>G, XM_047418949.1:c.728A>G, XM_047418952.1:c.728A>G, XM_011514718.1:c.728A>G, XM_047418947.1:c.728A>G, XM_047418948.1:c.728A>G, XM_047418950.1:c.728A>G, XM_047418954.1:c.248A>G, XM_047418955.1:c.248A>G, XM_047418953.1:c.248A>G, XM_047418958.1:c.728A>G, NP_060244.2:p.Lys243Arg, XP_011513021.1:p.Lys243Arg, XP_016866475.1:p.Lys243Arg, XP_024302249.1:p.Lys243Arg, XP_047274907.1:p.Lys243Arg, XP_047274905.1:p.Lys243Arg, XP_047274908.1:p.Lys243Arg, XP_011513020.1:p.Lys243Arg, XP_047274903.1:p.Lys243Arg, XP_047274904.1:p.Lys243Arg, XP_047274906.1:p.Lys243Arg, XP_047274910.1:p.Lys83Arg, XP_047274911.1:p.Lys83Arg, XP_047274909.1:p.Lys83Arg, XP_047274914.1:p.Lys243Arg

Select item 14713290758.

rs1471329075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:21230930 (GRCh38)
6:21231161 (GRCh37)
Canonical SPDI:: NC_000006.12:21230929:G:A
Gene:: CDKAL1 (Varview), LOC107986578 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.21230930G>A, NC_000006.11:g.21231161G>A, NG_021195.2:g.701474G>A, NM_017774.3:c.1631G>A, XR_001744021.2:n.130C>T, XR_001744021.1:n.130C>T, XM_047418949.1:c.1631G>A, XM_047418952.1:c.1568G>A, XM_011514718.1:c.1568G>A, XM_047418954.1:c.1151G>A, XM_047418955.1:c.1088G>A, NP_060244.2:p.Arg544Lys, XP_047274905.1:p.Arg544Lys, XP_047274908.1:p.Arg523Lys, XP_011513020.1:p.Arg523Lys, XP_047274910.1:p.Arg384Lys, XP_047274911.1:p.Arg363Lys

Select item 14704676729.

rs1470467672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:21000372 (GRCh38)
6:21000603 (GRCh37)
Canonical SPDI:: NC_000006.12:21000371:A:G
Gene:: CDKAL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.21000372A>G, NC_000006.11:g.21000603A>G, NG_021195.2:g.470916A>G, NM_017774.3:c.1055A>G, XM_011514719.3:c.1055A>G, XM_011514719.2:c.1055A>G, XM_011514719.1:c.1055A>G, XM_017010986.2:c.1055A>G, XM_017010986.1:c.1055A>G, XM_024446481.2:c.1055A>G, XM_024446481.1:c.1055A>G, XM_047418956.1:c.197A>G, XM_047418951.1:c.1055A>G, XM_047418949.1:c.1055A>G, XM_047418952.1:c.1055A>G, XM_011514718.1:c.1055A>G, XM_047418947.1:c.1055A>G, XM_047418948.1:c.1055A>G, XM_047418950.1:c.1055A>G, XM_047418954.1:c.575A>G, XM_047418955.1:c.575A>G, XM_047418953.1:c.575A>G, XM_047418957.1:c.197A>G, XM_047418958.1:c.*126A>G, NP_060244.2:p.Lys352Arg, XP_011513021.1:p.Lys352Arg, XP_016866475.1:p.Lys352Arg, XP_024302249.1:p.Lys352Arg, XP_047274912.1:p.Lys66Arg, XP_047274907.1:p.Lys352Arg, XP_047274905.1:p.Lys352Arg, XP_047274908.1:p.Lys352Arg, XP_011513020.1:p.Lys352Arg, XP_047274903.1:p.Lys352Arg, XP_047274904.1:p.Lys352Arg, XP_047274906.1:p.Lys352Arg, XP_047274910.1:p.Lys192Arg, XP_047274911.1:p.Lys192Arg, XP_047274909.1:p.Lys192Arg, XP_047274913.1:p.Lys66Arg

Select item 146900955610.

rs1469009556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:20649305 (GRCh38)
6:20649536 (GRCh37)
Canonical SPDI:: NC_000006.12:20649304:A:G
Gene:: CDKAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20649305A>G, NC_000006.11:g.20649536A>G, NG_021195.2:g.119849A>G, NM_017774.3:c.299A>G, XM_011514719.3:c.299A>G, XM_011514719.2:c.299A>G, XM_011514719.1:c.299A>G, XM_017010986.2:c.299A>G, XM_017010986.1:c.299A>G, XM_024446481.2:c.299A>G, XM_024446481.1:c.299A>G, XM_047418951.1:c.299A>G, XM_047418949.1:c.299A>G, XM_047418952.1:c.299A>G, XM_011514718.1:c.299A>G, XM_047418947.1:c.299A>G, XM_047418948.1:c.299A>G, XM_047418950.1:c.299A>G, XM_047418958.1:c.299A>G, NP_060244.2:p.Asp100Gly, XP_011513021.1:p.Asp100Gly, XP_016866475.1:p.Asp100Gly, XP_024302249.1:p.Asp100Gly, XP_047274907.1:p.Asp100Gly, XP_047274905.1:p.Asp100Gly, XP_047274908.1:p.Asp100Gly, XP_011513020.1:p.Asp100Gly, XP_047274903.1:p.Asp100Gly, XP_047274904.1:p.Asp100Gly, XP_047274906.1:p.Asp100Gly, XP_047274914.1:p.Asp100Gly

Select item 146734317211.

rs1467343172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:20846103 (GRCh38)
6:20846334 (GRCh37)
Canonical SPDI:: NC_000006.12:20846102:A:C
Gene:: CDKAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.20846103A>C, NC_000006.11:g.20846334A>C, NG_021195.2:g.316647A>C, NM_017774.3:c.667A>C, XM_011514719.3:c.667A>C, XM_011514719.2:c.667A>C, XM_011514719.1:c.667A>C, XM_017010986.2:c.667A>C, XM_017010986.1:c.667A>C, XM_024446481.2:c.667A>C, XM_024446481.1:c.667A>C, XM_047418956.1:c.-192A>C, XM_047418951.1:c.667A>C, XM_047418949.1:c.667A>C, XM_047418952.1:c.667A>C, XM_011514718.1:c.667A>C, XM_047418947.1:c.667A>C, XM_047418948.1:c.667A>C, XM_047418950.1:c.667A>C, XM_047418954.1:c.187A>C, XM_047418955.1:c.187A>C, XM_047418953.1:c.187A>C, XM_047418958.1:c.667A>C, NP_060244.2:p.Thr223Pro, XP_011513021.1:p.Thr223Pro, XP_016866475.1:p.Thr223Pro, XP_024302249.1:p.Thr223Pro, XP_047274907.1:p.Thr223Pro, XP_047274905.1:p.Thr223Pro, XP_047274908.1:p.Thr223Pro, XP_011513020.1:p.Thr223Pro, XP_047274903.1:p.Thr223Pro, XP_047274904.1:p.Thr223Pro, XP_047274906.1:p.Thr223Pro, XP_047274910.1:p.Thr63Pro, XP_047274911.1:p.Thr63Pro, XP_047274909.1:p.Thr63Pro, XP_047274914.1:p.Thr223Pro

Select item 146527396712.

rs1465273967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:21065168 (GRCh38)
6:21065399 (GRCh37)
Canonical SPDI:: NC_000006.12:21065167:C:T
Gene:: CDKAL1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.21065168C>T, NC_000006.11:g.21065399C>T, NG_021195.2:g.535712C>T, NM_017774.3:c.1176C>T, XM_011514719.3:c.1176C>T, XM_011514719.2:c.1176C>T, XM_011514719.1:c.1176C>T, XM_017010986.2:c.1176C>T, XM_017010986.1:c.1176C>T, XM_024446481.2:c.1176C>T, XM_024446481.1:c.1176C>T, XM_047418956.1:c.318C>T, XM_047418951.1:c.1176C>T, XM_047418949.1:c.1176C>T, XM_047418952.1:c.1176C>T, XM_011514718.1:c.1176C>T, XM_047418947.1:c.1176C>T, XM_047418948.1:c.1176C>T, XM_047418950.1:c.1176C>T, XM_047418954.1:c.696C>T, XM_047418955.1:c.696C>T, XM_047418953.1:c.696C>T, XM_047418957.1:c.318C>T

Select item 145785232413.

rs1457852324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:20955549 (GRCh38)
6:20955780 (GRCh37)
Canonical SPDI:: NC_000006.12:20955548:C:T
Gene:: CDKAL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20955549C>T, NC_000006.11:g.20955780C>T, NG_021195.2:g.426093C>T, NM_017774.3:c.873C>T, XM_011514719.3:c.873C>T, XM_011514719.2:c.873C>T, XM_011514719.1:c.873C>T, XM_017010986.2:c.873C>T, XM_017010986.1:c.873C>T, XM_024446481.2:c.873C>T, XM_024446481.1:c.873C>T, XM_047418956.1:c.15C>T, XM_047418951.1:c.873C>T, XM_047418949.1:c.873C>T, XM_047418952.1:c.873C>T, XM_011514718.1:c.873C>T, XM_047418947.1:c.873C>T, XM_047418948.1:c.873C>T, XM_047418950.1:c.873C>T, XM_047418954.1:c.393C>T, XM_047418955.1:c.393C>T, XM_047418953.1:c.393C>T, XM_047418957.1:c.15C>T

Select item 145773555014.

rs1457735550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:21230868 (GRCh38)
6:21231099 (GRCh37)
Canonical SPDI:: NC_000006.12:21230867:G:A
Gene:: CDKAL1 (Varview), LOC107986578 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.21230868G>A, NC_000006.11:g.21231099G>A, NG_021195.2:g.701412G>A, NM_017774.3:c.1569G>A, XR_001744021.2:n.192C>T, XR_001744021.1:n.192C>T, XM_047418949.1:c.1569G>A, XM_047418952.1:c.1506G>A, XM_011514718.1:c.1506G>A, XM_047418954.1:c.1089G>A, XM_047418955.1:c.1026G>A

Select item 145708557915.

rs1457085579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:20739596 (GRCh38)
6:20739827 (GRCh37)
Canonical SPDI:: NC_000006.12:20739595:A:C
Gene:: CDKAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.20739596A>C, NC_000006.11:g.20739827A>C, NG_021195.2:g.210140A>C, NM_017774.3:c.449A>C, XM_011514719.3:c.449A>C, XM_011514719.2:c.449A>C, XM_011514719.1:c.449A>C, XM_017010986.2:c.449A>C, XM_017010986.1:c.449A>C, XM_024446481.2:c.449A>C, XM_024446481.1:c.449A>C, XM_047418951.1:c.449A>C, XM_047418949.1:c.449A>C, XM_047418952.1:c.449A>C, XM_011514718.1:c.449A>C, XM_047418947.1:c.449A>C, XM_047418948.1:c.449A>C, XM_047418950.1:c.449A>C, XM_047418958.1:c.449A>C, NP_060244.2:p.Lys150Thr, XP_011513021.1:p.Lys150Thr, XP_016866475.1:p.Lys150Thr, XP_024302249.1:p.Lys150Thr, XP_047274907.1:p.Lys150Thr, XP_047274905.1:p.Lys150Thr, XP_047274908.1:p.Lys150Thr, XP_011513020.1:p.Lys150Thr, XP_047274903.1:p.Lys150Thr, XP_047274904.1:p.Lys150Thr, XP_047274906.1:p.Lys150Thr, XP_047274914.1:p.Lys150Thr

Select item 145698181216.

rs1456981812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:20548609 (GRCh38)
6:20548840 (GRCh37)
Canonical SPDI:: NC_000006.12:20548608:C:T
Gene:: CDKAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.20548609C>T, NC_000006.11:g.20548840C>T, NG_021195.2:g.19153C>T, NM_017774.3:c.190C>T, XM_011514719.3:c.190C>T, XM_011514719.2:c.190C>T, XM_011514719.1:c.190C>T, XM_017010986.2:c.190C>T, XM_017010986.1:c.190C>T, XM_024446481.2:c.190C>T, XM_024446481.1:c.190C>T, XM_047418951.1:c.190C>T, XM_047418949.1:c.190C>T, XM_047418952.1:c.190C>T, XM_011514718.1:c.190C>T, XM_047418947.1:c.190C>T, XM_047418948.1:c.190C>T, XM_047418950.1:c.190C>T, XM_047418958.1:c.190C>T, NP_060244.2:p.Gln64Ter, XP_011513021.1:p.Gln64Ter, XP_016866475.1:p.Gln64Ter, XP_024302249.1:p.Gln64Ter, XP_047274907.1:p.Gln64Ter, XP_047274905.1:p.Gln64Ter, XP_047274908.1:p.Gln64Ter, XP_011513020.1:p.Gln64Ter, XP_047274903.1:p.Gln64Ter, XP_047274904.1:p.Gln64Ter, XP_047274906.1:p.Gln64Ter, XP_047274914.1:p.Gln64Ter

Select item 145636968817.

rs1456369688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:21201142 (GRCh38)
6:21201373 (GRCh37)
Canonical SPDI:: NC_000006.12:21201141:G:A,NC_000006.12:21201141:G:T
Gene:: CDKAL1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
A=0./0 (PRJEB36033)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.21201142G>A, NC_000006.12:g.21201142G>T, NC_000006.11:g.21201373G>A, NC_000006.11:g.21201373G>T, NG_021195.2:g.671686G>A, NG_021195.2:g.671686G>T, NM_017774.3:c.1416G>A, NM_017774.3:c.1416G>T, XM_047418949.1:c.1416G>A, XM_047418949.1:c.1416G>T, XM_047418952.1:c.1353G>A, XM_047418952.1:c.1353G>T, XM_011514718.1:c.1353G>A, XM_011514718.1:c.1353G>T, XM_047418954.1:c.936G>A, XM_047418954.1:c.936G>T, XM_047418955.1:c.873G>A, XM_047418955.1:c.873G>T

Select item 145610522618.

rs1456105226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:21230860 (GRCh38)
6:21231091 (GRCh37)
Canonical SPDI:: NC_000006.12:21230859:G:A,NC_000006.12:21230859:G:T
Gene:: CDKAL1 (Varview), LOC107986578 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.21230860G>A, NC_000006.12:g.21230860G>T, NC_000006.11:g.21231091G>A, NC_000006.11:g.21231091G>T, NG_021195.2:g.701404G>A, NG_021195.2:g.701404G>T, NM_017774.3:c.1561G>A, NM_017774.3:c.1561G>T, XR_001744021.2:n.200C>T, XR_001744021.2:n.200C>A, XR_001744021.1:n.200C>T, XR_001744021.1:n.200C>A, XM_047418949.1:c.1561G>A, XM_047418949.1:c.1561G>T, XM_047418952.1:c.1498G>A, XM_047418952.1:c.1498G>T, XM_011514718.1:c.1498G>A, XM_011514718.1:c.1498G>T, XM_047418954.1:c.1081G>A, XM_047418954.1:c.1081G>T, XM_047418955.1:c.1018G>A, XM_047418955.1:c.1018G>T, NP_060244.2:p.Gly521Arg, NP_060244.2:p.Gly521Trp, XP_047274905.1:p.Gly521Arg, XP_047274905.1:p.Gly521Trp, XP_047274908.1:p.Gly500Arg, XP_047274908.1:p.Gly500Trp, XP_011513020.1:p.Gly500Arg, XP_011513020.1:p.Gly500Trp, XP_047274910.1:p.Gly361Arg, XP_047274910.1:p.Gly361Trp, XP_047274911.1:p.Gly340Arg, XP_047274911.1:p.Gly340Trp

Select item 145077750719.

rs1450777507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:20739526 (GRCh38)
6:20739757 (GRCh37)
Canonical SPDI:: NC_000006.12:20739525:C:T
Gene:: CDKAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.20739526C>T, NC_000006.11:g.20739757C>T, NG_021195.2:g.210070C>T, NM_017774.3:c.379C>T, XM_011514719.3:c.379C>T, XM_011514719.2:c.379C>T, XM_011514719.1:c.379C>T, XM_017010986.2:c.379C>T, XM_017010986.1:c.379C>T, XM_024446481.2:c.379C>T, XM_024446481.1:c.379C>T, XM_047418951.1:c.379C>T, XM_047418949.1:c.379C>T, XM_047418952.1:c.379C>T, XM_011514718.1:c.379C>T, XM_047418947.1:c.379C>T, XM_047418948.1:c.379C>T, XM_047418950.1:c.379C>T, XM_047418958.1:c.379C>T, NP_060244.2:p.Gln127Ter, XP_011513021.1:p.Gln127Ter, XP_016866475.1:p.Gln127Ter, XP_024302249.1:p.Gln127Ter, XP_047274907.1:p.Gln127Ter, XP_047274905.1:p.Gln127Ter, XP_047274908.1:p.Gln127Ter, XP_011513020.1:p.Gln127Ter, XP_047274903.1:p.Gln127Ter, XP_047274904.1:p.Gln127Ter, XP_047274906.1:p.Gln127Ter, XP_047274914.1:p.Gln127Ter

Select item 144998527720.

rs1449985277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:20781216 (GRCh38)
6:20781447 (GRCh37)
Canonical SPDI:: NC_000006.12:20781215:C:A
Gene:: CDKAL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.20781216C>A, NC_000006.11:g.20781447C>A, NG_021195.2:g.251760C>A, NM_017774.3:c.589C>A, XM_011514719.3:c.589C>A, XM_011514719.2:c.589C>A, XM_011514719.1:c.589C>A, XM_017010986.2:c.589C>A, XM_017010986.1:c.589C>A, XM_024446481.2:c.589C>A, XM_024446481.1:c.589C>A, XM_047418951.1:c.589C>A, XM_047418949.1:c.589C>A, XM_047418952.1:c.589C>A, XM_011514718.1:c.589C>A, XM_047418947.1:c.589C>A, XM_047418948.1:c.589C>A, XM_047418950.1:c.589C>A, XM_047418954.1:c.109C>A, XM_047418955.1:c.109C>A, XM_047418953.1:c.109C>A, XM_047418958.1:c.589C>A, NP_060244.2:p.Pro197Thr, XP_011513021.1:p.Pro197Thr, XP_016866475.1:p.Pro197Thr, XP_024302249.1:p.Pro197Thr, XP_047274907.1:p.Pro197Thr, XP_047274905.1:p.Pro197Thr, XP_047274908.1:p.Pro197Thr, XP_011513020.1:p.Pro197Thr, XP_047274903.1:p.Pro197Thr, XP_047274904.1:p.Pro197Thr, XP_047274906.1:p.Pro197Thr, XP_047274910.1:p.Pro37Thr, XP_047274911.1:p.Pro37Thr, XP_047274909.1:p.Pro37Thr, XP_047274914.1:p.Pro197Thr

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