SNP Links for Protein (Select 530404992) - SNP

Links from Protein

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Select item 14893241021.

rs1489324102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:74672893 (GRCh38)
14:75139596 (GRCh37)
Canonical SPDI:: NC_000014.9:74672892:G:A
Gene:: AREL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74672893G>A, NC_000014.8:g.75139596G>A, XM_006720344.4:c.1330C>T, XM_006720344.3:c.1330C>T, XM_006720344.2:c.1330C>T, XM_006720344.1:c.1330C>T, XM_011537416.4:c.1360C>T, XM_011537416.3:c.1360C>T, XM_011537416.2:c.1360C>T, XM_011537416.1:c.1360C>T, XM_005268244.4:c.877C>T, XM_005268244.3:c.877C>T, XM_005268244.2:c.877C>T, XM_005268244.1:c.877C>T, XM_011537415.3:c.1360C>T, XM_011537415.2:c.1360C>T, XM_011537415.1:c.1360C>T, NM_001039479.2:c.1360C>T, NM_001039479.1:c.1360C>T, NM_014821.2:c.1360C>T, XM_047432017.1:c.1330C>T, NM_001411046.1:c.1330C>T, NM_014821.1:c.1360C>T, XM_047432018.1:c.1360C>T, XM_047432019.1:c.1330C>T, XM_047432020.1:c.1360C>T, XP_006720407.1:p.His444Tyr, XP_011535718.1:p.His454Tyr, XP_005268301.1:p.His293Tyr, XP_011535717.1:p.His454Tyr, NP_001034568.1:p.His454Tyr, XP_047287973.1:p.His444Tyr, XP_047287974.1:p.His454Tyr, XP_047287975.1:p.His444Tyr, XP_047287976.1:p.His454Tyr

Select item 14888673872.

rs1488867387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:74675861 (GRCh38)
14:75142564 (GRCh37)
Canonical SPDI:: NC_000014.9:74675860:G:A
Gene:: AREL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74675861G>A, NC_000014.8:g.75142564G>A, XM_006720344.4:c.888C>T, XM_006720344.3:c.888C>T, XM_006720344.2:c.888C>T, XM_006720344.1:c.888C>T, XM_011537416.4:c.918C>T, XM_011537416.3:c.918C>T, XM_011537416.2:c.918C>T, XM_011537416.1:c.918C>T, XM_005268244.4:c.435C>T, XM_005268244.3:c.435C>T, XM_005268244.2:c.435C>T, XM_005268244.1:c.435C>T, XM_011537415.3:c.918C>T, XM_011537415.2:c.918C>T, XM_011537415.1:c.918C>T, NM_001039479.2:c.918C>T, NM_001039479.1:c.918C>T, NM_014821.2:c.918C>T, XM_047432017.1:c.888C>T, NM_001411046.1:c.888C>T, NM_014821.1:c.918C>T, XM_047432018.1:c.918C>T, XM_047432019.1:c.888C>T, XM_047432020.1:c.918C>T

Select item 14877901013.

rs1487790101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:74664904 (GRCh38)
14:75131607 (GRCh37)
Canonical SPDI:: NC_000014.9:74664903:C:T
Gene:: AREL1 (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)
HGVS:: NC_000014.9:g.74664904C>T, NC_000014.8:g.75131607C>T, XM_006720344.4:c.2095G>A, XM_006720344.3:c.2095G>A, XM_006720344.2:c.2095G>A, XM_006720344.1:c.2095G>A, XM_011537416.4:c.1945G>A, XM_011537416.3:c.1945G>A, XM_011537416.2:c.1945G>A, XM_011537416.1:c.1945G>A, XM_005268244.4:c.1642G>A, XM_005268244.3:c.1642G>A, XM_005268244.2:c.1642G>A, XM_005268244.1:c.1642G>A, XM_011537415.3:c.2125G>A, XM_011537415.2:c.2125G>A, XM_011537415.1:c.2125G>A, NM_001039479.2:c.2125G>A, NM_001039479.1:c.2125G>A, NM_014821.2:c.2125G>A, XM_047432017.1:c.2095G>A, NM_001411046.1:c.2095G>A, NM_014821.1:c.2125G>A, XM_047432018.1:c.1945G>A, XM_047432019.1:c.1915G>A, XP_006720407.1:p.Asp699Asn, XP_011535718.1:p.Asp649Asn, XP_005268301.1:p.Asp548Asn, XP_011535717.1:p.Asp709Asn, NP_001034568.1:p.Asp709Asn, XP_047287973.1:p.Asp699Asn, XP_047287974.1:p.Asp649Asn, XP_047287975.1:p.Asp639Asn

Select item 14788046774.

rs1478804677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:74672847 (GRCh38)
14:75139550 (GRCh37)
Canonical SPDI:: NC_000014.9:74672846:T:C
Gene:: AREL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000062/2 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74672847T>C, NC_000014.8:g.75139550T>C, XM_006720344.4:c.1376A>G, XM_006720344.3:c.1376A>G, XM_006720344.2:c.1376A>G, XM_006720344.1:c.1376A>G, XM_011537416.4:c.1406A>G, XM_011537416.3:c.1406A>G, XM_011537416.2:c.1406A>G, XM_011537416.1:c.1406A>G, XM_005268244.4:c.923A>G, XM_005268244.3:c.923A>G, XM_005268244.2:c.923A>G, XM_005268244.1:c.923A>G, XM_011537415.3:c.1406A>G, XM_011537415.2:c.1406A>G, XM_011537415.1:c.1406A>G, NM_001039479.2:c.1406A>G, NM_001039479.1:c.1406A>G, NM_014821.2:c.1406A>G, XM_047432017.1:c.1376A>G, NM_001411046.1:c.1376A>G, NM_014821.1:c.1406A>G, XM_047432018.1:c.1406A>G, XM_047432019.1:c.1376A>G, XM_047432020.1:c.1406A>G, XP_006720407.1:p.His459Arg, XP_011535718.1:p.His469Arg, XP_005268301.1:p.His308Arg, XP_011535717.1:p.His469Arg, NP_001034568.1:p.His469Arg, XP_047287973.1:p.His459Arg, XP_047287974.1:p.His469Arg, XP_047287975.1:p.His459Arg, XP_047287976.1:p.His469Arg

Select item 14773953235.

rs1477395323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:74663973 (GRCh38)
14:75130676 (GRCh37)
Canonical SPDI:: NC_000014.9:74663972:G:A
Gene:: AREL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.74663973G>A, NC_000014.8:g.75130676G>A, XM_006720344.4:c.2265C>T, XM_006720344.3:c.2265C>T, XM_006720344.2:c.2265C>T, XM_006720344.1:c.2265C>T, XM_011537416.4:c.2115C>T, XM_011537416.3:c.2115C>T, XM_011537416.2:c.2115C>T, XM_011537416.1:c.2115C>T, XM_005268244.4:c.1812C>T, XM_005268244.3:c.1812C>T, XM_005268244.2:c.1812C>T, XM_005268244.1:c.1812C>T, XM_011537415.3:c.2295C>T, XM_011537415.2:c.2295C>T, XM_011537415.1:c.2295C>T, NM_001039479.2:c.2295C>T, NM_001039479.1:c.2295C>T, NM_014821.2:c.2295C>T, XM_047432017.1:c.2265C>T, NM_001411046.1:c.2265C>T, NM_014821.1:c.2295C>T, XM_047432018.1:c.2115C>T, XM_047432019.1:c.2085C>T

Select item 14768844036.

rs1476884403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:74676309 (GRCh38)
14:75143012 (GRCh37)
Canonical SPDI:: NC_000014.9:74676308:C:T
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000014.9:g.74676309C>T, NC_000014.8:g.75143012C>T, XM_006720344.4:c.634G>A, XM_006720344.3:c.634G>A, XM_006720344.2:c.634G>A, XM_006720344.1:c.634G>A, XM_011537416.4:c.664G>A, XM_011537416.3:c.664G>A, XM_011537416.2:c.664G>A, XM_011537416.1:c.664G>A, XM_005268244.4:c.181G>A, XM_005268244.3:c.181G>A, XM_005268244.2:c.181G>A, XM_005268244.1:c.181G>A, XM_011537415.3:c.664G>A, XM_011537415.2:c.664G>A, XM_011537415.1:c.664G>A, NM_001039479.2:c.664G>A, NM_001039479.1:c.664G>A, NM_014821.2:c.664G>A, XM_047432017.1:c.634G>A, NM_001411046.1:c.634G>A, NM_014821.1:c.664G>A, XM_047432018.1:c.664G>A, XM_047432019.1:c.634G>A, XM_047432020.1:c.664G>A, XP_006720407.1:p.Glu212Lys, XP_011535718.1:p.Glu222Lys, XP_005268301.1:p.Glu61Lys, XP_011535717.1:p.Glu222Lys, NP_001034568.1:p.Glu222Lys, XP_047287973.1:p.Glu212Lys, XP_047287974.1:p.Glu222Lys, XP_047287975.1:p.Glu212Lys, XP_047287976.1:p.Glu222Lys

Select item 14767217467.

rs1476721746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:74676257 (GRCh38)
14:75142960 (GRCh37)
Canonical SPDI:: NC_000014.9:74676256:T:G
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74676257T>G, NC_000014.8:g.75142960T>G, XM_006720344.4:c.686A>C, XM_006720344.3:c.686A>C, XM_006720344.2:c.686A>C, XM_006720344.1:c.686A>C, XM_011537416.4:c.716A>C, XM_011537416.3:c.716A>C, XM_011537416.2:c.716A>C, XM_011537416.1:c.716A>C, XM_005268244.4:c.233A>C, XM_005268244.3:c.233A>C, XM_005268244.2:c.233A>C, XM_005268244.1:c.233A>C, XM_011537415.3:c.716A>C, XM_011537415.2:c.716A>C, XM_011537415.1:c.716A>C, NM_001039479.2:c.716A>C, NM_001039479.1:c.716A>C, NM_014821.2:c.716A>C, XM_047432017.1:c.686A>C, NM_001411046.1:c.686A>C, NM_014821.1:c.716A>C, XM_047432018.1:c.716A>C, XM_047432019.1:c.686A>C, XM_047432020.1:c.716A>C, XP_006720407.1:p.Gln229Pro, XP_011535718.1:p.Gln239Pro, XP_005268301.1:p.Gln78Pro, XP_011535717.1:p.Gln239Pro, NP_001034568.1:p.Gln239Pro, XP_047287973.1:p.Gln229Pro, XP_047287974.1:p.Gln239Pro, XP_047287975.1:p.Gln229Pro, XP_047287976.1:p.Gln239Pro

Select item 14764546698.

rs1476454669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:74675866 (GRCh38)
14:75142569 (GRCh37)
Canonical SPDI:: NC_000014.9:74675865:T:C
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.74675866T>C, NC_000014.8:g.75142569T>C, XM_006720344.4:c.883A>G, XM_006720344.3:c.883A>G, XM_006720344.2:c.883A>G, XM_006720344.1:c.883A>G, XM_011537416.4:c.913A>G, XM_011537416.3:c.913A>G, XM_011537416.2:c.913A>G, XM_011537416.1:c.913A>G, XM_005268244.4:c.430A>G, XM_005268244.3:c.430A>G, XM_005268244.2:c.430A>G, XM_005268244.1:c.430A>G, XM_011537415.3:c.913A>G, XM_011537415.2:c.913A>G, XM_011537415.1:c.913A>G, NM_001039479.2:c.913A>G, NM_001039479.1:c.913A>G, NM_014821.2:c.913A>G, XM_047432017.1:c.883A>G, NM_001411046.1:c.883A>G, NM_014821.1:c.913A>G, XM_047432018.1:c.913A>G, XM_047432019.1:c.883A>G, XM_047432020.1:c.913A>G, XP_006720407.1:p.Thr295Ala, XP_011535718.1:p.Thr305Ala, XP_005268301.1:p.Thr144Ala, XP_011535717.1:p.Thr305Ala, NP_001034568.1:p.Thr305Ala, XP_047287973.1:p.Thr295Ala, XP_047287974.1:p.Thr305Ala, XP_047287975.1:p.Thr295Ala, XP_047287976.1:p.Thr305Ala

Select item 14754736049.

rs1475473604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:74667550 (GRCh38)
14:75134253 (GRCh37)
Canonical SPDI:: NC_000014.9:74667549:A:G
Gene:: AREL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74667550A>G, NC_000014.8:g.75134253A>G, XM_006720344.4:c.1929T>C, XM_006720344.3:c.1929T>C, XM_006720344.2:c.1929T>C, XM_006720344.1:c.1929T>C, XM_011537416.4:c.1779T>C, XM_011537416.3:c.1779T>C, XM_011537416.2:c.1779T>C, XM_011537416.1:c.1779T>C, XM_005268244.4:c.1476T>C, XM_005268244.3:c.1476T>C, XM_005268244.2:c.1476T>C, XM_005268244.1:c.1476T>C, XM_011537415.3:c.1959T>C, XM_011537415.2:c.1959T>C, XM_011537415.1:c.1959T>C, NM_001039479.2:c.1959T>C, NM_001039479.1:c.1959T>C, NM_014821.2:c.1959T>C, XM_047432017.1:c.1929T>C, NM_001411046.1:c.1929T>C, NM_014821.1:c.1959T>C, XM_047432018.1:c.1779T>C, XM_047432019.1:c.1749T>C

Select item 147395693210.

rs1473956932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:74664878 (GRCh38)
14:75131581 (GRCh37)
Canonical SPDI:: NC_000014.9:74664877:G:T
Gene:: AREL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.74664878G>T, NC_000014.8:g.75131581G>T, XM_006720344.4:c.2121C>A, XM_006720344.3:c.2121C>A, XM_006720344.2:c.2121C>A, XM_006720344.1:c.2121C>A, XM_011537416.4:c.1971C>A, XM_011537416.3:c.1971C>A, XM_011537416.2:c.1971C>A, XM_011537416.1:c.1971C>A, XM_005268244.4:c.1668C>A, XM_005268244.3:c.1668C>A, XM_005268244.2:c.1668C>A, XM_005268244.1:c.1668C>A, XM_011537415.3:c.2151C>A, XM_011537415.2:c.2151C>A, XM_011537415.1:c.2151C>A, NM_001039479.2:c.2151C>A, NM_001039479.1:c.2151C>A, NM_014821.2:c.2151C>A, XM_047432017.1:c.2121C>A, NM_001411046.1:c.2121C>A, NM_014821.1:c.2151C>A, XM_047432018.1:c.1971C>A, XM_047432019.1:c.1941C>A

Select item 147304217911.

rs1473042179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:74672831 (GRCh38)
14:75139534 (GRCh37)
Canonical SPDI:: NC_000014.9:74672830:C:T
Gene:: AREL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000142/4 (TOMMO)
HGVS:: NC_000014.9:g.74672831C>T, NC_000014.8:g.75139534C>T, XM_006720344.4:c.1392G>A, XM_006720344.3:c.1392G>A, XM_006720344.2:c.1392G>A, XM_006720344.1:c.1392G>A, XM_011537416.4:c.1422G>A, XM_011537416.3:c.1422G>A, XM_011537416.2:c.1422G>A, XM_011537416.1:c.1422G>A, XM_005268244.4:c.939G>A, XM_005268244.3:c.939G>A, XM_005268244.2:c.939G>A, XM_005268244.1:c.939G>A, XM_011537415.3:c.1422G>A, XM_011537415.2:c.1422G>A, XM_011537415.1:c.1422G>A, NM_001039479.2:c.1422G>A, NM_001039479.1:c.1422G>A, NM_014821.2:c.1422G>A, XM_047432017.1:c.1392G>A, NM_001411046.1:c.1392G>A, NM_014821.1:c.1422G>A, XM_047432018.1:c.1422G>A, XM_047432019.1:c.1392G>A, XM_047432020.1:c.1422G>A

Select item 147100807112.

rs1471008071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:74675880 (GRCh38)
14:75142583 (GRCh37)
Canonical SPDI:: NC_000014.9:74675879:T:C
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.74675880T>C, NC_000014.8:g.75142583T>C, XM_006720344.4:c.869A>G, XM_006720344.3:c.869A>G, XM_006720344.2:c.869A>G, XM_006720344.1:c.869A>G, XM_011537416.4:c.899A>G, XM_011537416.3:c.899A>G, XM_011537416.2:c.899A>G, XM_011537416.1:c.899A>G, XM_005268244.4:c.416A>G, XM_005268244.3:c.416A>G, XM_005268244.2:c.416A>G, XM_005268244.1:c.416A>G, XM_011537415.3:c.899A>G, XM_011537415.2:c.899A>G, XM_011537415.1:c.899A>G, NM_001039479.2:c.899A>G, NM_001039479.1:c.899A>G, NM_014821.2:c.899A>G, XM_047432017.1:c.869A>G, NM_001411046.1:c.869A>G, NM_014821.1:c.899A>G, XM_047432018.1:c.899A>G, XM_047432019.1:c.869A>G, XM_047432020.1:c.899A>G, XP_006720407.1:p.Tyr290Cys, XP_011535718.1:p.Tyr300Cys, XP_005268301.1:p.Tyr139Cys, XP_011535717.1:p.Tyr300Cys, NP_001034568.1:p.Tyr300Cys, XP_047287973.1:p.Tyr290Cys, XP_047287974.1:p.Tyr300Cys, XP_047287975.1:p.Tyr290Cys, XP_047287976.1:p.Tyr300Cys

Select item 146919419413.

rs1469194194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:74670037 (GRCh38)
14:75136740 (GRCh37)
Canonical SPDI:: NC_000014.9:74670036:G:A
Gene:: AREL1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74670037G>A, NC_000014.8:g.75136740G>A, XM_006720344.4:c.1668C>T, XM_006720344.3:c.1668C>T, XM_006720344.2:c.1668C>T, XM_006720344.1:c.1668C>T, XM_005268244.4:c.1215C>T, XM_005268244.3:c.1215C>T, XM_005268244.2:c.1215C>T, XM_005268244.1:c.1215C>T, XM_011537415.3:c.1698C>T, XM_011537415.2:c.1698C>T, XM_011537415.1:c.1698C>T, NM_001039479.2:c.1698C>T, NM_001039479.1:c.1698C>T, NM_014821.2:c.1698C>T, XM_047432017.1:c.1668C>T, NM_001411046.1:c.1668C>T, NM_014821.1:c.1698C>T, XM_047432020.1:c.*73C>T

Select item 146899476614.

rs1468994766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:74675814 (GRCh38)
14:75142517 (GRCh37)
Canonical SPDI:: NC_000014.9:74675813:G:C
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.74675814G>C, NC_000014.8:g.75142517G>C, XM_006720344.4:c.935C>G, XM_006720344.3:c.935C>G, XM_006720344.2:c.935C>G, XM_006720344.1:c.935C>G, XM_011537416.4:c.965C>G, XM_011537416.3:c.965C>G, XM_011537416.2:c.965C>G, XM_011537416.1:c.965C>G, XM_005268244.4:c.482C>G, XM_005268244.3:c.482C>G, XM_005268244.2:c.482C>G, XM_005268244.1:c.482C>G, XM_011537415.3:c.965C>G, XM_011537415.2:c.965C>G, XM_011537415.1:c.965C>G, NM_001039479.2:c.965C>G, NM_001039479.1:c.965C>G, NM_014821.2:c.965C>G, XM_047432017.1:c.935C>G, NM_001411046.1:c.935C>G, NM_014821.1:c.965C>G, XM_047432018.1:c.965C>G, XM_047432019.1:c.935C>G, XM_047432020.1:c.965C>G, XP_006720407.1:p.Ser312Cys, XP_011535718.1:p.Ser322Cys, XP_005268301.1:p.Ser161Cys, XP_011535717.1:p.Ser322Cys, NP_001034568.1:p.Ser322Cys, XP_047287973.1:p.Ser312Cys, XP_047287974.1:p.Ser322Cys, XP_047287975.1:p.Ser312Cys, XP_047287976.1:p.Ser322Cys

Select item 146840963415.

rs1468409634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:74669973 (GRCh38)
14:75136676 (GRCh37)
Canonical SPDI:: NC_000014.9:74669972:T:C
Gene:: AREL1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000014.9:g.74669973T>C, NC_000014.8:g.75136676T>C, XM_006720344.4:c.1732A>G, XM_006720344.3:c.1732A>G, XM_006720344.2:c.1732A>G, XM_006720344.1:c.1732A>G, XM_005268244.4:c.1279A>G, XM_005268244.3:c.1279A>G, XM_005268244.2:c.1279A>G, XM_005268244.1:c.1279A>G, XM_011537415.3:c.1762A>G, XM_011537415.2:c.1762A>G, XM_011537415.1:c.1762A>G, NM_001039479.2:c.1762A>G, NM_001039479.1:c.1762A>G, NM_014821.2:c.1762A>G, XM_047432017.1:c.1732A>G, NM_001411046.1:c.1732A>G, NM_014821.1:c.1762A>G, XP_006720407.1:p.Ile578Val, XP_005268301.1:p.Ile427Val, XP_011535717.1:p.Ile588Val, NP_001034568.1:p.Ile588Val, XP_047287973.1:p.Ile578Val

Select item 146808551216.

rs1468085512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:74673190 (GRCh38)
14:75139893 (GRCh37)
Canonical SPDI:: NC_000014.9:74673189:T:G
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.74673190T>G, NC_000014.8:g.75139893T>G, XM_006720344.4:c.1157A>C, XM_006720344.3:c.1157A>C, XM_006720344.2:c.1157A>C, XM_006720344.1:c.1157A>C, XM_011537416.4:c.1187A>C, XM_011537416.3:c.1187A>C, XM_011537416.2:c.1187A>C, XM_011537416.1:c.1187A>C, XM_005268244.4:c.704A>C, XM_005268244.3:c.704A>C, XM_005268244.2:c.704A>C, XM_005268244.1:c.704A>C, XM_011537415.3:c.1187A>C, XM_011537415.2:c.1187A>C, XM_011537415.1:c.1187A>C, NM_001039479.2:c.1187A>C, NM_001039479.1:c.1187A>C, NM_014821.2:c.1187A>C, XM_047432017.1:c.1157A>C, NM_001411046.1:c.1157A>C, NM_014821.1:c.1187A>C, XM_047432018.1:c.1187A>C, XM_047432019.1:c.1157A>C, XM_047432020.1:c.1187A>C, XP_006720407.1:p.His386Pro, XP_011535718.1:p.His396Pro, XP_005268301.1:p.His235Pro, XP_011535717.1:p.His396Pro, NP_001034568.1:p.His396Pro, XP_047287973.1:p.His386Pro, XP_047287974.1:p.His396Pro, XP_047287975.1:p.His386Pro, XP_047287976.1:p.His396Pro

Select item 146704823717.

rs1467048237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:74667512 (GRCh38)
14:75134215 (GRCh37)
Canonical SPDI:: NC_000014.9:74667511:T:C
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74667512T>C, NC_000014.8:g.75134215T>C, XM_006720344.4:c.1967A>G, XM_006720344.3:c.1967A>G, XM_006720344.2:c.1967A>G, XM_006720344.1:c.1967A>G, XM_011537416.4:c.1817A>G, XM_011537416.3:c.1817A>G, XM_011537416.2:c.1817A>G, XM_011537416.1:c.1817A>G, XM_005268244.4:c.1514A>G, XM_005268244.3:c.1514A>G, XM_005268244.2:c.1514A>G, XM_005268244.1:c.1514A>G, XM_011537415.3:c.1997A>G, XM_011537415.2:c.1997A>G, XM_011537415.1:c.1997A>G, NM_001039479.2:c.1997A>G, NM_001039479.1:c.1997A>G, NM_014821.2:c.1997A>G, XM_047432017.1:c.1967A>G, NM_001411046.1:c.1967A>G, NM_014821.1:c.1997A>G, XM_047432018.1:c.1817A>G, XM_047432019.1:c.1787A>G, XP_006720407.1:p.Tyr656Cys, XP_011535718.1:p.Tyr606Cys, XP_005268301.1:p.Tyr505Cys, XP_011535717.1:p.Tyr666Cys, NP_001034568.1:p.Tyr666Cys, XP_047287973.1:p.Tyr656Cys, XP_047287974.1:p.Tyr606Cys, XP_047287975.1:p.Tyr596Cys

Select item 146390434718.

rs1463904347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:74675805 (GRCh38)
14:75142508 (GRCh37)
Canonical SPDI:: NC_000014.9:74675804:C:A,NC_000014.9:74675804:C:G,NC_000014.9:74675804:C:T
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.74675805C>A, NC_000014.9:g.74675805C>G, NC_000014.9:g.74675805C>T, NC_000014.8:g.75142508C>A, NC_000014.8:g.75142508C>G, NC_000014.8:g.75142508C>T, XM_006720344.4:c.944G>T, XM_006720344.4:c.944G>C, XM_006720344.4:c.944G>A, XM_006720344.3:c.944G>T, XM_006720344.3:c.944G>C, XM_006720344.3:c.944G>A, XM_006720344.2:c.944G>T, XM_006720344.2:c.944G>C, XM_006720344.2:c.944G>A, XM_006720344.1:c.944G>T, XM_006720344.1:c.944G>C, XM_006720344.1:c.944G>A, XM_011537416.4:c.974G>T, XM_011537416.4:c.974G>C, XM_011537416.4:c.974G>A, XM_011537416.3:c.974G>T, XM_011537416.3:c.974G>C, XM_011537416.3:c.974G>A, XM_011537416.2:c.974G>T, XM_011537416.2:c.974G>C, XM_011537416.2:c.974G>A, XM_011537416.1:c.974G>T, XM_011537416.1:c.974G>C, XM_011537416.1:c.974G>A, XM_005268244.4:c.491G>T, XM_005268244.4:c.491G>C, XM_005268244.4:c.491G>A, XM_005268244.3:c.491G>T, XM_005268244.3:c.491G>C, XM_005268244.3:c.491G>A, XM_005268244.2:c.491G>T, XM_005268244.2:c.491G>C, XM_005268244.2:c.491G>A, XM_005268244.1:c.491G>T, XM_005268244.1:c.491G>C, XM_005268244.1:c.491G>A, XM_011537415.3:c.974G>T, XM_011537415.3:c.974G>C, XM_011537415.3:c.974G>A, XM_011537415.2:c.974G>T, XM_011537415.2:c.974G>C, XM_011537415.2:c.974G>A, XM_011537415.1:c.974G>T, XM_011537415.1:c.974G>C, XM_011537415.1:c.974G>A, NM_001039479.2:c.974G>T, NM_001039479.2:c.974G>C, NM_001039479.2:c.974G>A, NM_001039479.1:c.974G>T, NM_001039479.1:c.974G>C, NM_001039479.1:c.974G>A, NM_014821.2:c.974G>T, NM_014821.2:c.974G>C, NM_014821.2:c.974G>A, XM_047432017.1:c.944G>T, XM_047432017.1:c.944G>C, XM_047432017.1:c.944G>A, NM_001411046.1:c.944G>T, NM_001411046.1:c.944G>C, NM_001411046.1:c.944G>A, NM_014821.1:c.974G>T, NM_014821.1:c.974G>C, NM_014821.1:c.974G>A, XM_047432018.1:c.974G>T, XM_047432018.1:c.974G>C, XM_047432018.1:c.974G>A, XM_047432019.1:c.944G>T, XM_047432019.1:c.944G>C, XM_047432019.1:c.944G>A, XM_047432020.1:c.974G>T, XM_047432020.1:c.974G>C, XM_047432020.1:c.974G>A, XP_006720407.1:p.Arg315Leu, XP_006720407.1:p.Arg315Pro, XP_006720407.1:p.Arg315Gln, XP_011535718.1:p.Arg325Leu, XP_011535718.1:p.Arg325Pro, XP_011535718.1:p.Arg325Gln, XP_005268301.1:p.Arg164Leu, XP_005268301.1:p.Arg164Pro, XP_005268301.1:p.Arg164Gln, XP_011535717.1:p.Arg325Leu, XP_011535717.1:p.Arg325Pro, XP_011535717.1:p.Arg325Gln, NP_001034568.1:p.Arg325Leu, NP_001034568.1:p.Arg325Pro, NP_001034568.1:p.Arg325Gln, XP_047287973.1:p.Arg315Leu, XP_047287973.1:p.Arg315Pro, XP_047287973.1:p.Arg315Gln, XP_047287974.1:p.Arg325Leu, XP_047287974.1:p.Arg325Pro, XP_047287974.1:p.Arg325Gln, XP_047287975.1:p.Arg315Leu, XP_047287975.1:p.Arg315Pro, XP_047287975.1:p.Arg315Gln, XP_047287976.1:p.Arg325Leu, XP_047287976.1:p.Arg325Pro, XP_047287976.1:p.Arg325Gln

Select item 146344596319.

rs1463445963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:74667561 (GRCh38)
14:75134264 (GRCh37)
Canonical SPDI:: NC_000014.9:74667560:G:A,NC_000014.9:74667560:G:C
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.74667561G>A, NC_000014.9:g.74667561G>C, NC_000014.8:g.75134264G>A, NC_000014.8:g.75134264G>C, XM_006720344.4:c.1918C>T, XM_006720344.4:c.1918C>G, XM_006720344.3:c.1918C>T, XM_006720344.3:c.1918C>G, XM_006720344.2:c.1918C>T, XM_006720344.2:c.1918C>G, XM_006720344.1:c.1918C>T, XM_006720344.1:c.1918C>G, XM_011537416.4:c.1768C>T, XM_011537416.4:c.1768C>G, XM_011537416.3:c.1768C>T, XM_011537416.3:c.1768C>G, XM_011537416.2:c.1768C>T, XM_011537416.2:c.1768C>G, XM_011537416.1:c.1768C>T, XM_011537416.1:c.1768C>G, XM_005268244.4:c.1465C>T, XM_005268244.4:c.1465C>G, XM_005268244.3:c.1465C>T, XM_005268244.3:c.1465C>G, XM_005268244.2:c.1465C>T, XM_005268244.2:c.1465C>G, XM_005268244.1:c.1465C>T, XM_005268244.1:c.1465C>G, XM_011537415.3:c.1948C>T, XM_011537415.3:c.1948C>G, XM_011537415.2:c.1948C>T, XM_011537415.2:c.1948C>G, XM_011537415.1:c.1948C>T, XM_011537415.1:c.1948C>G, NM_001039479.2:c.1948C>T, NM_001039479.2:c.1948C>G, NM_001039479.1:c.1948C>T, NM_001039479.1:c.1948C>G, NM_014821.2:c.1948C>T, NM_014821.2:c.1948C>G, XM_047432017.1:c.1918C>T, XM_047432017.1:c.1918C>G, NM_001411046.1:c.1918C>T, NM_001411046.1:c.1918C>G, NM_014821.1:c.1948C>T, NM_014821.1:c.1948C>G, XM_047432018.1:c.1768C>T, XM_047432018.1:c.1768C>G, XM_047432019.1:c.1738C>T, XM_047432019.1:c.1738C>G, XP_006720407.1:p.Pro640Ser, XP_006720407.1:p.Pro640Ala, XP_011535718.1:p.Pro590Ser, XP_011535718.1:p.Pro590Ala, XP_005268301.1:p.Pro489Ser, XP_005268301.1:p.Pro489Ala, XP_011535717.1:p.Pro650Ser, XP_011535717.1:p.Pro650Ala, NP_001034568.1:p.Pro650Ser, NP_001034568.1:p.Pro650Ala, XP_047287973.1:p.Pro640Ser, XP_047287973.1:p.Pro640Ala, XP_047287974.1:p.Pro590Ser, XP_047287974.1:p.Pro590Ala, XP_047287975.1:p.Pro580Ser, XP_047287975.1:p.Pro580Ala

Select item 146186372920.

rs1461863729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:74664924 (GRCh38)
14:75131627 (GRCh37)
Canonical SPDI:: NC_000014.9:74664923:A:G
Gene:: AREL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.74664924A>G, NC_000014.8:g.75131627A>G, XM_006720344.4:c.2075T>C, XM_006720344.3:c.2075T>C, XM_006720344.2:c.2075T>C, XM_006720344.1:c.2075T>C, XM_011537416.4:c.1925T>C, XM_011537416.3:c.1925T>C, XM_011537416.2:c.1925T>C, XM_011537416.1:c.1925T>C, XM_005268244.4:c.1622T>C, XM_005268244.3:c.1622T>C, XM_005268244.2:c.1622T>C, XM_005268244.1:c.1622T>C, XM_011537415.3:c.2105T>C, XM_011537415.2:c.2105T>C, XM_011537415.1:c.2105T>C, NM_001039479.2:c.2105T>C, NM_001039479.1:c.2105T>C, NM_014821.2:c.2105T>C, XM_047432017.1:c.2075T>C, NM_001411046.1:c.2075T>C, NM_014821.1:c.2105T>C, XM_047432018.1:c.1925T>C, XM_047432019.1:c.1895T>C, XP_006720407.1:p.Leu692Pro, XP_011535718.1:p.Leu642Pro, XP_005268301.1:p.Leu541Pro, XP_011535717.1:p.Leu702Pro, NP_001034568.1:p.Leu702Pro, XP_047287973.1:p.Leu692Pro, XP_047287974.1:p.Leu642Pro, XP_047287975.1:p.Leu632Pro

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