SNP Links for Protein (Select 530366208) - SNP

Links from Protein

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Select item 14884074441.

rs1488407444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:220604104 (GRCh38)
1:220777446 (GRCh37)
Canonical SPDI:: NC_000001.11:220604103:G:A
Gene:: MARK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.220604104G>A, NC_000001.10:g.220777446G>A, XM_005273134.6:c.462G>A, XM_005273134.5:c.462G>A, XM_005273134.4:c.462G>A, XM_005273134.3:c.462G>A, XM_005273134.2:c.462G>A, XM_005273134.1:c.462G>A, NM_018650.5:c.462G>A, NM_018650.4:c.462G>A, NM_018650.3:c.462G>A, XM_006711326.5:c.198G>A, XM_006711326.4:c.198G>A, XM_006711326.3:c.198G>A, XM_006711326.2:c.198G>A, XM_006711326.1:c.198G>A, XM_011509561.4:c.438G>A, XM_011509561.3:c.438G>A, XM_011509561.2:c.438G>A, XM_011509561.1:c.438G>A, XM_011509562.4:c.132G>A, XM_011509562.3:c.132G>A, XM_011509562.2:c.132G>A, XM_011509562.1:c.132G>A, XM_017001305.3:c.132G>A, XM_017001305.2:c.132G>A, XM_017001305.1:c.132G>A, XM_024447090.2:c.462G>A, XM_024447090.1:c.462G>A, NM_001286124.2:c.462G>A, NM_001286124.1:c.462G>A, NM_001286126.2:c.462G>A, NM_001286126.1:c.462G>A, NM_001286128.2:c.396G>A, NM_001286128.1:c.396G>A, XM_047420844.1:c.438G>A, XP_005273191.1:p.Met154Ile, NP_061120.3:p.Met154Ile, XP_006711389.1:p.Met66Ile, XP_011507863.1:p.Met146Ile, XP_011507864.1:p.Met44Ile, XP_016856794.1:p.Met44Ile, XP_024302858.1:p.Met154Ile, NP_001273053.1:p.Met154Ile, NP_001273055.1:p.Met154Ile, NP_001273057.1:p.Met132Ile, XP_047276800.1:p.Met146Ile

Select item 14883052192.

rs1488305219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:220631105 (GRCh38)
1:220804447 (GRCh37)
Canonical SPDI:: NC_000001.11:220631104:A:T
Gene:: MARK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.220631105A>T, NC_000001.10:g.220804447A>T, XM_005273134.6:c.980A>T, XM_005273134.5:c.980A>T, XM_005273134.4:c.980A>T, XM_005273134.3:c.980A>T, XM_005273134.2:c.980A>T, XM_005273134.1:c.980A>T, NM_018650.5:c.980A>T, NM_018650.4:c.980A>T, NM_018650.3:c.980A>T, XM_006711326.5:c.716A>T, XM_006711326.4:c.716A>T, XM_006711326.3:c.716A>T, XM_006711326.2:c.716A>T, XM_006711326.1:c.716A>T, XM_011509561.4:c.956A>T, XM_011509561.3:c.956A>T, XM_011509561.2:c.956A>T, XM_011509561.1:c.956A>T, XM_011509562.4:c.650A>T, XM_011509562.3:c.650A>T, XM_011509562.2:c.650A>T, XM_011509562.1:c.650A>T, XM_017001305.3:c.650A>T, XM_017001305.2:c.650A>T, XM_017001305.1:c.650A>T, NM_001286124.2:c.980A>T, NM_001286124.1:c.980A>T, NM_001286126.2:c.980A>T, NM_001286126.1:c.980A>T, NM_001286128.2:c.914A>T, NM_001286128.1:c.914A>T, XM_047420844.1:c.956A>T, XP_005273191.1:p.Asp327Val, NP_061120.3:p.Asp327Val, XP_006711389.1:p.Asp239Val, XP_011507863.1:p.Asp319Val, XP_011507864.1:p.Asp217Val, XP_016856794.1:p.Asp217Val, NP_001273053.1:p.Asp327Val, NP_001273055.1:p.Asp327Val, NP_001273057.1:p.Asp305Val, XP_047276800.1:p.Asp319Val

Select item 14879690203.

rs1487969020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:220618512 (GRCh38)
1:220791854 (GRCh37)
Canonical SPDI:: NC_000001.11:220618511:G:C
Gene:: MARK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.220618512G>C, NC_000001.10:g.220791854G>C, XM_005273134.6:c.755G>C, XM_005273134.5:c.755G>C, XM_005273134.4:c.755G>C, XM_005273134.3:c.755G>C, XM_005273134.2:c.755G>C, XM_005273134.1:c.755G>C, NM_018650.5:c.755G>C, NM_018650.4:c.755G>C, NM_018650.3:c.755G>C, XM_006711326.5:c.491G>C, XM_006711326.4:c.491G>C, XM_006711326.3:c.491G>C, XM_006711326.2:c.491G>C, XM_006711326.1:c.491G>C, XM_011509561.4:c.731G>C, XM_011509561.3:c.731G>C, XM_011509561.2:c.731G>C, XM_011509561.1:c.731G>C, XM_011509562.4:c.425G>C, XM_011509562.3:c.425G>C, XM_011509562.2:c.425G>C, XM_011509562.1:c.425G>C, XM_017001305.3:c.425G>C, XM_017001305.2:c.425G>C, XM_017001305.1:c.425G>C, XM_024447090.2:c.755G>C, XM_024447090.1:c.755G>C, NM_001286124.2:c.755G>C, NM_001286124.1:c.755G>C, NM_001286126.2:c.755G>C, NM_001286126.1:c.755G>C, NM_001286128.2:c.689G>C, NM_001286128.1:c.689G>C, XM_047420844.1:c.731G>C, XP_005273191.1:p.Ser252Thr, NP_061120.3:p.Ser252Thr, XP_006711389.1:p.Ser164Thr, XP_011507863.1:p.Ser244Thr, XP_011507864.1:p.Ser142Thr, XP_016856794.1:p.Ser142Thr, XP_024302858.1:p.Ser252Thr, NP_001273053.1:p.Ser252Thr, NP_001273055.1:p.Ser252Thr, NP_001273057.1:p.Ser230Thr, XP_047276800.1:p.Ser244Thr

Select item 14860370794.

rs1486037079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:220528872 (GRCh38)
1:220702214 (GRCh37)
Canonical SPDI:: NC_000001.11:220528871:A:G
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.220528872A>G, NC_000001.10:g.220702214A>G, XM_005273134.6:c.50A>G, XM_005273134.5:c.50A>G, XM_005273134.4:c.50A>G, XM_005273134.3:c.50A>G, XM_005273134.2:c.50A>G, XM_005273134.1:c.50A>G, NM_018650.5:c.50A>G, NM_018650.4:c.50A>G, NM_018650.3:c.50A>G, XM_017001305.3:c.-372A>G, XM_017001305.2:c.-372A>G, XM_017001305.1:c.-372A>G, XM_024447090.2:c.50A>G, XM_024447090.1:c.50A>G, NM_001286124.2:c.50A>G, NM_001286124.1:c.50A>G, NM_001286126.2:c.50A>G, NM_001286126.1:c.50A>G, NM_001286128.2:c.50A>G, NM_001286128.1:c.50A>G, NM_001286129.2:c.50A>G, NM_001286129.1:c.50A>G, XP_005273191.1:p.Asn17Ser, NP_061120.3:p.Asn17Ser, XP_024302858.1:p.Asn17Ser, NP_001273053.1:p.Asn17Ser, NP_001273055.1:p.Asn17Ser, NP_001273057.1:p.Asn17Ser, NP_001273058.1:p.Asn17Ser

Select item 14859120155.

rs1485912015 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:220636023 (GRCh38)
1:220809366 (GRCh37)
Canonical SPDI:: NC_000001.11:220636023::C
Gene:: MARK1 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.220636023_220636024insC, NC_000001.10:g.220809365_220809366insC, XM_005273134.6:c.1467_1468insC, XM_005273134.5:c.1467_1468insC, XM_005273134.4:c.1467_1468insC, XM_005273134.3:c.1467_1468insC, XM_005273134.2:c.1467_1468insC, XM_005273134.1:c.1467_1468insC, NM_018650.5:c.1467_1468insC, NM_018650.4:c.1467_1468insC, NM_018650.3:c.1467_1468insC, XM_006711326.5:c.1203_1204insC, XM_006711326.4:c.1203_1204insC, XM_006711326.3:c.1203_1204insC, XM_006711326.2:c.1203_1204insC, XM_006711326.1:c.1203_1204insC, XM_011509561.4:c.1443_1444insC, XM_011509561.3:c.1443_1444insC, XM_011509561.2:c.1443_1444insC, XM_011509561.1:c.1443_1444insC, XM_011509562.4:c.1137_1138insC, XM_011509562.3:c.1137_1138insC, XM_011509562.2:c.1137_1138insC, XM_011509562.1:c.1137_1138insC, XM_017001305.3:c.1137_1138insC, XM_017001305.2:c.1137_1138insC, XM_017001305.1:c.1137_1138insC, NM_001286124.2:c.1467_1468insC, NM_001286124.1:c.1467_1468insC, NM_001286126.2:c.1467_1468insC, NM_001286126.1:c.1467_1468insC, NM_001286128.2:c.1401_1402insC, NM_001286128.1:c.1401_1402insC, XM_047420844.1:c.1443_1444insC, XP_005273191.1:p.Ser490fs, NP_061120.3:p.Ser490fs, XP_006711389.1:p.Ser402fs, XP_011507863.1:p.Ser482fs, XP_011507864.1:p.Ser380fs, XP_016856794.1:p.Ser380fs, NP_001273053.1:p.Ser490fs, NP_001273055.1:p.Ser490fs, NP_001273057.1:p.Ser468fs, XP_047276800.1:p.Ser482fs

Select item 14844155896.

rs1484415589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:220652005 (GRCh38)
1:220825347 (GRCh37)
Canonical SPDI:: NC_000001.11:220652004:A:G
Gene:: MARK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.220652005A>G, NC_000001.10:g.220825347A>G, XM_005273134.6:c.1591A>G, XM_005273134.5:c.1591A>G, XM_005273134.4:c.1591A>G, XM_005273134.3:c.1591A>G, XM_005273134.2:c.1591A>G, XM_005273134.1:c.1591A>G, NM_018650.5:c.1591A>G, NM_018650.4:c.1591A>G, NM_018650.3:c.1591A>G, XM_006711326.5:c.1327A>G, XM_006711326.4:c.1327A>G, XM_006711326.3:c.1327A>G, XM_006711326.2:c.1327A>G, XM_006711326.1:c.1327A>G, XM_011509561.4:c.1567A>G, XM_011509561.3:c.1567A>G, XM_011509561.2:c.1567A>G, XM_011509561.1:c.1567A>G, XM_011509562.4:c.1261A>G, XM_011509562.3:c.1261A>G, XM_011509562.2:c.1261A>G, XM_011509562.1:c.1261A>G, XM_017001305.3:c.1261A>G, XM_017001305.2:c.1261A>G, XM_017001305.1:c.1261A>G, NM_001286124.2:c.1591A>G, NM_001286124.1:c.1591A>G, NM_001286126.2:c.1591A>G, NM_001286126.1:c.1591A>G, NM_001286128.2:c.1525A>G, NM_001286128.1:c.1525A>G, XM_047420844.1:c.1567A>G, XP_005273191.1:p.Ser531Gly, NP_061120.3:p.Ser531Gly, XP_006711389.1:p.Ser443Gly, XP_011507863.1:p.Ser523Gly, XP_011507864.1:p.Ser421Gly, XP_016856794.1:p.Ser421Gly, NP_001273053.1:p.Ser531Gly, NP_001273055.1:p.Ser531Gly, NP_001273057.1:p.Ser509Gly, XP_047276800.1:p.Ser523Gly

Select item 14808420977.

rs1480842097 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:220661968 (GRCh38)
1:220835310 (GRCh37)
Canonical SPDI:: NC_000001.11:220661965:TGTG:TG
Gene:: MARK1 (Varview)
Functional Consequence:: stop_gained,inframe_indel,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.220661966TG[1], NC_000001.10:g.220835308TG[1], XM_005273134.6:c.2148_2149del, XM_005273134.5:c.2148_2149del, XM_005273134.4:c.2148_2149del, XM_005273134.3:c.2148_2149del, XM_005273134.2:c.2148_2149del, XM_005273134.1:c.2148_2149del, NM_018650.5:c.2190_2191del, NM_018650.4:c.2190_2191del, NM_018650.3:c.2190_2191del, XM_006711326.5:c.1929_1930del, XM_006711326.4:c.1929_1930del, XM_006711326.3:c.1929_1930del, XM_006711326.2:c.1929_1930del, XM_006711326.1:c.1929_1930del, XM_011509561.4:c.2169_2170del, XM_011509561.3:c.2169_2170del, XM_011509561.2:c.2169_2170del, XM_011509561.1:c.2169_2170del, XM_011509562.4:c.1863_1864del, XM_011509562.3:c.1863_1864del, XM_011509562.2:c.1863_1864del, XM_011509562.1:c.1863_1864del, XM_017001305.3:c.1863_1864del, XM_017001305.2:c.1863_1864del, XM_017001305.1:c.1863_1864del, NM_001286124.2:c.2193_2194del, NM_001286124.1:c.2193_2194del, NM_001286126.2:c.2145_2146del, NM_001286126.1:c.2145_2146del, NM_001286128.2:c.2079_2080del, NM_001286128.1:c.2079_2080del, XM_047420844.1:c.2166_2167del, XP_005273191.1:p.Cys716_Asp717delinsTer, NP_061120.3:p.Cys730_Asp731delinsTer, XP_006711389.1:p.Cys643_Asp644delinsTer, XP_011507863.1:p.Cys723_Asp724delinsTer, XP_011507864.1:p.Cys621_Asp622delinsTer, XP_016856794.1:p.Cys621_Asp622delinsTer, NP_001273053.1:p.Cys731_Asp732delinsTer, NP_001273055.1:p.Cys715_Asp716delinsTer, NP_001273057.1:p.Cys693_Asp694delinsTer, XP_047276800.1:p.Cys722_Asp723delinsTer

Select item 14750709048.

rs1475070904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:220635399 (GRCh38)
1:220808741 (GRCh37)
Canonical SPDI:: NC_000001.11:220635398:C:T
Gene:: MARK1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.220635399C>T, NC_000001.10:g.220808741C>T, XM_005273134.6:c.1146C>T, XM_005273134.5:c.1146C>T, XM_005273134.4:c.1146C>T, XM_005273134.3:c.1146C>T, XM_005273134.2:c.1146C>T, XM_005273134.1:c.1146C>T, NM_018650.5:c.1146C>T, NM_018650.4:c.1146C>T, NM_018650.3:c.1146C>T, XM_006711326.5:c.882C>T, XM_006711326.4:c.882C>T, XM_006711326.3:c.882C>T, XM_006711326.2:c.882C>T, XM_006711326.1:c.882C>T, XM_011509561.4:c.1122C>T, XM_011509561.3:c.1122C>T, XM_011509561.2:c.1122C>T, XM_011509561.1:c.1122C>T, XM_011509562.4:c.816C>T, XM_011509562.3:c.816C>T, XM_011509562.2:c.816C>T, XM_011509562.1:c.816C>T, XM_017001305.3:c.816C>T, XM_017001305.2:c.816C>T, XM_017001305.1:c.816C>T, NM_001286124.2:c.1146C>T, NM_001286124.1:c.1146C>T, NM_001286126.2:c.1146C>T, NM_001286126.1:c.1146C>T, NM_001286128.2:c.1080C>T, NM_001286128.1:c.1080C>T, XM_047420844.1:c.1122C>T

Select item 14745971639.

rs1474597163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:220635882 (GRCh38)
1:220809224 (GRCh37)
Canonical SPDI:: NC_000001.11:220635881:T:C
Gene:: MARK1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.220635882T>C, NC_000001.10:g.220809224T>C, XM_005273134.6:c.1326T>C, XM_005273134.5:c.1326T>C, XM_005273134.4:c.1326T>C, XM_005273134.3:c.1326T>C, XM_005273134.2:c.1326T>C, XM_005273134.1:c.1326T>C, NM_018650.5:c.1326T>C, NM_018650.4:c.1326T>C, NM_018650.3:c.1326T>C, XM_006711326.5:c.1062T>C, XM_006711326.4:c.1062T>C, XM_006711326.3:c.1062T>C, XM_006711326.2:c.1062T>C, XM_006711326.1:c.1062T>C, XM_011509561.4:c.1302T>C, XM_011509561.3:c.1302T>C, XM_011509561.2:c.1302T>C, XM_011509561.1:c.1302T>C, XM_011509562.4:c.996T>C, XM_011509562.3:c.996T>C, XM_011509562.2:c.996T>C, XM_011509562.1:c.996T>C, XM_017001305.3:c.996T>C, XM_017001305.2:c.996T>C, XM_017001305.1:c.996T>C, NM_001286124.2:c.1326T>C, NM_001286124.1:c.1326T>C, NM_001286126.2:c.1326T>C, NM_001286126.1:c.1326T>C, NM_001286128.2:c.1260T>C, NM_001286128.1:c.1260T>C, XM_047420844.1:c.1302T>C

Select item 147414311210.

rs1474143112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:220651990 (GRCh38)
1:220825332 (GRCh37)
Canonical SPDI:: NC_000001.11:220651989:A:G
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.220651990A>G, NC_000001.10:g.220825332A>G, XM_005273134.6:c.1576A>G, XM_005273134.5:c.1576A>G, XM_005273134.4:c.1576A>G, XM_005273134.3:c.1576A>G, XM_005273134.2:c.1576A>G, XM_005273134.1:c.1576A>G, NM_018650.5:c.1576A>G, NM_018650.4:c.1576A>G, NM_018650.3:c.1576A>G, XM_006711326.5:c.1312A>G, XM_006711326.4:c.1312A>G, XM_006711326.3:c.1312A>G, XM_006711326.2:c.1312A>G, XM_006711326.1:c.1312A>G, XM_011509561.4:c.1552A>G, XM_011509561.3:c.1552A>G, XM_011509561.2:c.1552A>G, XM_011509561.1:c.1552A>G, XM_011509562.4:c.1246A>G, XM_011509562.3:c.1246A>G, XM_011509562.2:c.1246A>G, XM_011509562.1:c.1246A>G, XM_017001305.3:c.1246A>G, XM_017001305.2:c.1246A>G, XM_017001305.1:c.1246A>G, NM_001286124.2:c.1576A>G, NM_001286124.1:c.1576A>G, NM_001286126.2:c.1576A>G, NM_001286126.1:c.1576A>G, NM_001286128.2:c.1510A>G, NM_001286128.1:c.1510A>G, XM_047420844.1:c.1552A>G, XP_005273191.1:p.Thr526Ala, NP_061120.3:p.Thr526Ala, XP_006711389.1:p.Thr438Ala, XP_011507863.1:p.Thr518Ala, XP_011507864.1:p.Thr416Ala, XP_016856794.1:p.Thr416Ala, NP_001273053.1:p.Thr526Ala, NP_001273055.1:p.Thr526Ala, NP_001273057.1:p.Thr504Ala, XP_047276800.1:p.Thr518Ala

Select item 146875261911.

rs1468752619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:220652108 (GRCh38)
1:220825450 (GRCh37)
Canonical SPDI:: NC_000001.11:220652107:C:T
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.220652108C>T, NC_000001.10:g.220825450C>T, XM_005273134.6:c.1694C>T, XM_005273134.5:c.1694C>T, XM_005273134.4:c.1694C>T, XM_005273134.3:c.1694C>T, XM_005273134.2:c.1694C>T, XM_005273134.1:c.1694C>T, NM_018650.5:c.1694C>T, NM_018650.4:c.1694C>T, NM_018650.3:c.1694C>T, XM_006711326.5:c.1430C>T, XM_006711326.4:c.1430C>T, XM_006711326.3:c.1430C>T, XM_006711326.2:c.1430C>T, XM_006711326.1:c.1430C>T, XM_011509561.4:c.1670C>T, XM_011509561.3:c.1670C>T, XM_011509561.2:c.1670C>T, XM_011509561.1:c.1670C>T, XM_011509562.4:c.1364C>T, XM_011509562.3:c.1364C>T, XM_011509562.2:c.1364C>T, XM_011509562.1:c.1364C>T, XM_017001305.3:c.1364C>T, XM_017001305.2:c.1364C>T, XM_017001305.1:c.1364C>T, NM_001286124.2:c.1694C>T, NM_001286124.1:c.1694C>T, NM_001286126.2:c.1694C>T, NM_001286126.1:c.1694C>T, NM_001286128.2:c.1628C>T, NM_001286128.1:c.1628C>T, XM_047420844.1:c.1670C>T, XP_005273191.1:p.Thr565Ile, NP_061120.3:p.Thr565Ile, XP_006711389.1:p.Thr477Ile, XP_011507863.1:p.Thr557Ile, XP_011507864.1:p.Thr455Ile, XP_016856794.1:p.Thr455Ile, NP_001273053.1:p.Thr565Ile, NP_001273055.1:p.Thr565Ile, NP_001273057.1:p.Thr543Ile, XP_047276800.1:p.Thr557Ile

Select item 146868780112.

rs1468687801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:220662133 (GRCh38)
1:220835475 (GRCh37)
Canonical SPDI:: NC_000001.11:220662132:T:C
Gene:: MARK1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.220662133T>C, NC_000001.10:g.220835475T>C, XM_005273134.6:c.2313T>C, XM_005273134.5:c.2313T>C, XM_005273134.4:c.2313T>C, XM_005273134.3:c.2313T>C, XM_005273134.2:c.2313T>C, XM_005273134.1:c.2313T>C, NM_018650.5:c.2355T>C, NM_018650.4:c.2355T>C, NM_018650.3:c.2355T>C, XM_006711326.5:c.2094T>C, XM_006711326.4:c.2094T>C, XM_006711326.3:c.2094T>C, XM_006711326.2:c.2094T>C, XM_006711326.1:c.2094T>C, XM_011509561.4:c.2334T>C, XM_011509561.3:c.2334T>C, XM_011509561.2:c.2334T>C, XM_011509561.1:c.2334T>C, XM_011509562.4:c.2028T>C, XM_011509562.3:c.2028T>C, XM_011509562.2:c.2028T>C, XM_011509562.1:c.2028T>C, XM_017001305.3:c.2028T>C, XM_017001305.2:c.2028T>C, XM_017001305.1:c.2028T>C, NM_001286124.2:c.2358T>C, NM_001286124.1:c.2358T>C, NM_001286126.2:c.2310T>C, NM_001286126.1:c.2310T>C, NM_001286128.2:c.2244T>C, NM_001286128.1:c.2244T>C, XM_047420844.1:c.2331T>C

Select item 146843703313.

rs1468437033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:220615943 (GRCh38)
1:220789285 (GRCh37)
Canonical SPDI:: NC_000001.11:220615942:T:C
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.220615943T>C, NC_000001.10:g.220789285T>C, XM_005273134.6:c.500T>C, XM_005273134.5:c.500T>C, XM_005273134.4:c.500T>C, XM_005273134.3:c.500T>C, XM_005273134.2:c.500T>C, XM_005273134.1:c.500T>C, NM_018650.5:c.500T>C, NM_018650.4:c.500T>C, NM_018650.3:c.500T>C, XM_006711326.5:c.236T>C, XM_006711326.4:c.236T>C, XM_006711326.3:c.236T>C, XM_006711326.2:c.236T>C, XM_006711326.1:c.236T>C, XM_011509561.4:c.476T>C, XM_011509561.3:c.476T>C, XM_011509561.2:c.476T>C, XM_011509561.1:c.476T>C, XM_011509562.4:c.170T>C, XM_011509562.3:c.170T>C, XM_011509562.2:c.170T>C, XM_011509562.1:c.170T>C, XM_017001305.3:c.170T>C, XM_017001305.2:c.170T>C, XM_017001305.1:c.170T>C, XM_024447090.2:c.500T>C, XM_024447090.1:c.500T>C, NM_001286124.2:c.500T>C, NM_001286124.1:c.500T>C, NM_001286126.2:c.500T>C, NM_001286126.1:c.500T>C, NM_001286128.2:c.434T>C, NM_001286128.1:c.434T>C, XM_047420844.1:c.476T>C, XP_005273191.1:p.Val167Ala, NP_061120.3:p.Val167Ala, XP_006711389.1:p.Val79Ala, XP_011507863.1:p.Val159Ala, XP_011507864.1:p.Val57Ala, XP_016856794.1:p.Val57Ala, XP_024302858.1:p.Val167Ala, NP_001273053.1:p.Val167Ala, NP_001273055.1:p.Val167Ala, NP_001273057.1:p.Val145Ala, XP_047276800.1:p.Val159Ala

Select item 146747131114.

rs1467471311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:220635887 (GRCh38)
1:220809229 (GRCh37)
Canonical SPDI:: NC_000001.11:220635886:G:A
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.220635887G>A, NC_000001.10:g.220809229G>A, XM_005273134.6:c.1331G>A, XM_005273134.5:c.1331G>A, XM_005273134.4:c.1331G>A, XM_005273134.3:c.1331G>A, XM_005273134.2:c.1331G>A, XM_005273134.1:c.1331G>A, NM_018650.5:c.1331G>A, NM_018650.4:c.1331G>A, NM_018650.3:c.1331G>A, XM_006711326.5:c.1067G>A, XM_006711326.4:c.1067G>A, XM_006711326.3:c.1067G>A, XM_006711326.2:c.1067G>A, XM_006711326.1:c.1067G>A, XM_011509561.4:c.1307G>A, XM_011509561.3:c.1307G>A, XM_011509561.2:c.1307G>A, XM_011509561.1:c.1307G>A, XM_011509562.4:c.1001G>A, XM_011509562.3:c.1001G>A, XM_011509562.2:c.1001G>A, XM_011509562.1:c.1001G>A, XM_017001305.3:c.1001G>A, XM_017001305.2:c.1001G>A, XM_017001305.1:c.1001G>A, NM_001286124.2:c.1331G>A, NM_001286124.1:c.1331G>A, NM_001286126.2:c.1331G>A, NM_001286126.1:c.1331G>A, NM_001286128.2:c.1265G>A, NM_001286128.1:c.1265G>A, XM_047420844.1:c.1307G>A, XP_005273191.1:p.Ser444Asn, NP_061120.3:p.Ser444Asn, XP_006711389.1:p.Ser356Asn, XP_011507863.1:p.Ser436Asn, XP_011507864.1:p.Ser334Asn, XP_016856794.1:p.Ser334Asn, NP_001273053.1:p.Ser444Asn, NP_001273055.1:p.Ser444Asn, NP_001273057.1:p.Ser422Asn, XP_047276800.1:p.Ser436Asn

Select item 146510919615.

rs1465109196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:220579554 (GRCh38)
1:220752896 (GRCh37)
Canonical SPDI:: NC_000001.11:220579553:A:G
Gene:: MARK1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.220579554A>G, NC_000001.10:g.220752896A>G, XM_005273134.6:c.252A>G, XM_005273134.5:c.252A>G, XM_005273134.4:c.252A>G, XM_005273134.3:c.252A>G, XM_005273134.2:c.252A>G, XM_005273134.1:c.252A>G, NM_018650.5:c.252A>G, NM_018650.4:c.252A>G, NM_018650.3:c.252A>G, XM_006711326.5:c.-152A>G, XM_006711326.4:c.-152A>G, XM_006711326.3:c.-152A>G, XM_006711326.2:c.-152A>G, XM_011509561.4:c.228A>G, XM_011509561.3:c.228A>G, XM_011509561.2:c.228A>G, XM_011509561.1:c.228A>G, XM_017001305.3:c.-79A>G, XM_017001305.2:c.-79A>G, XM_017001305.1:c.-79A>G, XM_024447090.2:c.252A>G, XM_024447090.1:c.252A>G, NM_001286124.2:c.252A>G, NM_001286124.1:c.252A>G, NM_001286126.2:c.252A>G, NM_001286126.1:c.252A>G, NM_001286128.2:c.252A>G, NM_001286128.1:c.252A>G, NM_001286129.2:c.252A>G, NM_001286129.1:c.252A>G, XM_047420844.1:c.228A>G

Select item 146383719816.

rs1463837198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:220653331 (GRCh38)
1:220826673 (GRCh37)
Canonical SPDI:: NC_000001.11:220653330:T:C
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.220653331T>C, NC_000001.10:g.220826673T>C, XM_005273134.6:c.1970T>C, XM_005273134.5:c.1970T>C, XM_005273134.4:c.1970T>C, XM_005273134.3:c.1970T>C, XM_005273134.2:c.1970T>C, XM_005273134.1:c.1970T>C, NM_018650.5:c.1967T>C, NM_018650.4:c.1967T>C, NM_018650.3:c.1967T>C, XM_006711326.5:c.1706T>C, XM_006711326.4:c.1706T>C, XM_006711326.3:c.1706T>C, XM_006711326.2:c.1706T>C, XM_006711326.1:c.1706T>C, XM_011509561.4:c.1946T>C, XM_011509561.3:c.1946T>C, XM_011509561.2:c.1946T>C, XM_011509561.1:c.1946T>C, XM_011509562.4:c.1640T>C, XM_011509562.3:c.1640T>C, XM_011509562.2:c.1640T>C, XM_011509562.1:c.1640T>C, XM_017001305.3:c.1640T>C, XM_017001305.2:c.1640T>C, XM_017001305.1:c.1640T>C, NM_001286124.2:c.1970T>C, NM_001286124.1:c.1970T>C, NM_001286126.2:c.1967T>C, NM_001286126.1:c.1967T>C, NM_001286128.2:c.1901T>C, NM_001286128.1:c.1901T>C, XM_047420844.1:c.1943T>C, XP_005273191.1:p.Ile657Thr, NP_061120.3:p.Ile656Thr, XP_006711389.1:p.Ile569Thr, XP_011507863.1:p.Ile649Thr, XP_011507864.1:p.Ile547Thr, XP_016856794.1:p.Ile547Thr, NP_001273053.1:p.Ile657Thr, NP_001273055.1:p.Ile656Thr, NP_001273057.1:p.Ile634Thr, XP_047276800.1:p.Ile648Thr

Select item 146075392517.

rs1460753925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:220631035 (GRCh38)
1:220804377 (GRCh37)
Canonical SPDI:: NC_000001.11:220631034:C:A
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.220631035C>A, NC_000001.10:g.220804377C>A, XM_005273134.6:c.910C>A, XM_005273134.5:c.910C>A, XM_005273134.4:c.910C>A, XM_005273134.3:c.910C>A, XM_005273134.2:c.910C>A, XM_005273134.1:c.910C>A, NM_018650.5:c.910C>A, NM_018650.4:c.910C>A, NM_018650.3:c.910C>A, XM_006711326.5:c.646C>A, XM_006711326.4:c.646C>A, XM_006711326.3:c.646C>A, XM_006711326.2:c.646C>A, XM_006711326.1:c.646C>A, XM_011509561.4:c.886C>A, XM_011509561.3:c.886C>A, XM_011509561.2:c.886C>A, XM_011509561.1:c.886C>A, XM_011509562.4:c.580C>A, XM_011509562.3:c.580C>A, XM_011509562.2:c.580C>A, XM_011509562.1:c.580C>A, XM_017001305.3:c.580C>A, XM_017001305.2:c.580C>A, XM_017001305.1:c.580C>A, NM_001286124.2:c.910C>A, NM_001286124.1:c.910C>A, NM_001286126.2:c.910C>A, NM_001286126.1:c.910C>A, NM_001286128.2:c.844C>A, NM_001286128.1:c.844C>A, XM_047420844.1:c.886C>A, XP_005273191.1:p.Gln304Lys, NP_061120.3:p.Gln304Lys, XP_006711389.1:p.Gln216Lys, XP_011507863.1:p.Gln296Lys, XP_011507864.1:p.Gln194Lys, XP_016856794.1:p.Gln194Lys, NP_001273053.1:p.Gln304Lys, NP_001273055.1:p.Gln304Lys, NP_001273057.1:p.Gln282Lys, XP_047276800.1:p.Gln296Lys

Select item 145986463918.

rs1459864639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:220632296 (GRCh38)
1:220805638 (GRCh37)
Canonical SPDI:: NC_000001.11:220632295:G:A
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.220632296G>A, NC_000001.10:g.220805638G>A, XM_005273134.6:c.1105G>A, XM_005273134.5:c.1105G>A, XM_005273134.4:c.1105G>A, XM_005273134.3:c.1105G>A, XM_005273134.2:c.1105G>A, XM_005273134.1:c.1105G>A, NM_018650.5:c.1105G>A, NM_018650.4:c.1105G>A, NM_018650.3:c.1105G>A, XM_006711326.5:c.841G>A, XM_006711326.4:c.841G>A, XM_006711326.3:c.841G>A, XM_006711326.2:c.841G>A, XM_006711326.1:c.841G>A, XM_011509561.4:c.1081G>A, XM_011509561.3:c.1081G>A, XM_011509561.2:c.1081G>A, XM_011509561.1:c.1081G>A, XM_011509562.4:c.775G>A, XM_011509562.3:c.775G>A, XM_011509562.2:c.775G>A, XM_011509562.1:c.775G>A, XM_017001305.3:c.775G>A, XM_017001305.2:c.775G>A, XM_017001305.1:c.775G>A, NM_001286124.2:c.1105G>A, NM_001286124.1:c.1105G>A, NM_001286126.2:c.1105G>A, NM_001286126.1:c.1105G>A, NM_001286128.2:c.1039G>A, NM_001286128.1:c.1039G>A, XM_047420844.1:c.1081G>A, XP_005273191.1:p.Gly369Ser, NP_061120.3:p.Gly369Ser, XP_006711389.1:p.Gly281Ser, XP_011507863.1:p.Gly361Ser, XP_011507864.1:p.Gly259Ser, XP_016856794.1:p.Gly259Ser, NP_001273053.1:p.Gly369Ser, NP_001273055.1:p.Gly369Ser, NP_001273057.1:p.Gly347Ser, XP_047276800.1:p.Gly361Ser

Select item 145980672519.

rs1459806725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:220661844 (GRCh38)
1:220835186 (GRCh37)
Canonical SPDI:: NC_000001.11:220661843:A:G
Gene:: MARK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.220661844A>G, NC_000001.10:g.220835186A>G, XM_005273134.6:c.2024A>G, XM_005273134.5:c.2024A>G, XM_005273134.4:c.2024A>G, XM_005273134.3:c.2024A>G, XM_005273134.2:c.2024A>G, XM_005273134.1:c.2024A>G, NM_018650.5:c.2066A>G, NM_018650.4:c.2066A>G, NM_018650.3:c.2066A>G, XM_006711326.5:c.1805A>G, XM_006711326.4:c.1805A>G, XM_006711326.3:c.1805A>G, XM_006711326.2:c.1805A>G, XM_006711326.1:c.1805A>G, XM_011509561.4:c.2045A>G, XM_011509561.3:c.2045A>G, XM_011509561.2:c.2045A>G, XM_011509561.1:c.2045A>G, XM_011509562.4:c.1739A>G, XM_011509562.3:c.1739A>G, XM_011509562.2:c.1739A>G, XM_011509562.1:c.1739A>G, XM_017001305.3:c.1739A>G, XM_017001305.2:c.1739A>G, XM_017001305.1:c.1739A>G, NM_001286124.2:c.2069A>G, NM_001286124.1:c.2069A>G, NM_001286126.2:c.2021A>G, NM_001286126.1:c.2021A>G, NM_001286128.2:c.1955A>G, NM_001286128.1:c.1955A>G, XM_047420844.1:c.2042A>G, XP_005273191.1:p.Lys675Arg, NP_061120.3:p.Lys689Arg, XP_006711389.1:p.Lys602Arg, XP_011507863.1:p.Lys682Arg, XP_011507864.1:p.Lys580Arg, XP_016856794.1:p.Lys580Arg, NP_001273053.1:p.Lys690Arg, NP_001273055.1:p.Lys674Arg, NP_001273057.1:p.Lys652Arg, XP_047276800.1:p.Lys681Arg

Select item 145646135020.

rs1456461350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:220615985 (GRCh38)
1:220789327 (GRCh37)
Canonical SPDI:: NC_000001.11:220615984:G:A
Gene:: MARK1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.220615985G>A, NC_000001.10:g.220789327G>A, XM_005273134.6:c.542G>A, XM_005273134.5:c.542G>A, XM_005273134.4:c.542G>A, XM_005273134.3:c.542G>A, XM_005273134.2:c.542G>A, XM_005273134.1:c.542G>A, NM_018650.5:c.542G>A, NM_018650.4:c.542G>A, NM_018650.3:c.542G>A, XM_006711326.5:c.278G>A, XM_006711326.4:c.278G>A, XM_006711326.3:c.278G>A, XM_006711326.2:c.278G>A, XM_006711326.1:c.278G>A, XM_011509561.4:c.518G>A, XM_011509561.3:c.518G>A, XM_011509561.2:c.518G>A, XM_011509561.1:c.518G>A, XM_011509562.4:c.212G>A, XM_011509562.3:c.212G>A, XM_011509562.2:c.212G>A, XM_011509562.1:c.212G>A, XM_017001305.3:c.212G>A, XM_017001305.2:c.212G>A, XM_017001305.1:c.212G>A, XM_024447090.2:c.542G>A, XM_024447090.1:c.542G>A, NM_001286124.2:c.542G>A, NM_001286124.1:c.542G>A, NM_001286126.2:c.542G>A, NM_001286126.1:c.542G>A, NM_001286128.2:c.476G>A, NM_001286128.1:c.476G>A, XM_047420844.1:c.518G>A, XP_005273191.1:p.Arg181His, NP_061120.3:p.Arg181His, XP_006711389.1:p.Arg93His, XP_011507863.1:p.Arg173His, XP_011507864.1:p.Arg71His, XP_016856794.1:p.Arg71His, XP_024302858.1:p.Arg181His, NP_001273053.1:p.Arg181His, NP_001273055.1:p.Arg181His, NP_001273057.1:p.Arg159His, XP_047276800.1:p.Arg173His

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