SNP Links for Protein (Select 767969933) - SNP

Links from Protein

Items: 1 to 20 of 300

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Select item 14905618921.

rs1490561892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94180043 (GRCh38)
11:93913209 (GRCh37)
Canonical SPDI:: NC_000011.10:94180042:C:G
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94180043C>G, NC_000011.9:g.93913209C>G, NG_027936.1:g.56116C>G, NM_015368.4:c.987C>G, NM_015368.3:c.987C>G, XM_011542734.3:c.561C>G, XM_011542734.2:c.561C>G, XM_011542734.1:c.561C>G, XM_047426702.1:c.561C>G, NP_056183.2:p.Ser329Arg, XP_011541036.1:p.Ser187Arg, XP_047282658.1:p.Ser187Arg

Select item 14893640162.

rs1489364016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94178513 (GRCh38)
11:93911679 (GRCh37)
Canonical SPDI:: NC_000011.10:94178512:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94178513G>A, NC_000011.9:g.93911679G>A, NG_027936.1:g.54586G>A, NM_015368.4:c.466G>A, NM_015368.3:c.466G>A, XM_011542734.3:c.40G>A, XM_011542734.2:c.40G>A, XM_011542734.1:c.40G>A, XM_047426702.1:c.40G>A, NP_056183.2:p.Ala156Thr, XP_011541036.1:p.Ala14Thr, XP_047282658.1:p.Ala14Thr

Select item 14883866953.

rs1488386695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:94179955 (GRCh38)
11:93913121 (GRCh37)
Canonical SPDI:: NC_000011.10:94179954:G:A,NC_000011.10:94179954:G:T
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94179955G>A, NC_000011.10:g.94179955G>T, NC_000011.9:g.93913121G>A, NC_000011.9:g.93913121G>T, NG_027936.1:g.56028G>A, NG_027936.1:g.56028G>T, NM_015368.4:c.899G>A, NM_015368.4:c.899G>T, NM_015368.3:c.899G>A, NM_015368.3:c.899G>T, XM_011542734.3:c.473G>A, XM_011542734.3:c.473G>T, XM_011542734.2:c.473G>A, XM_011542734.2:c.473G>T, XM_011542734.1:c.473G>A, XM_011542734.1:c.473G>T, XM_047426702.1:c.473G>A, XM_047426702.1:c.473G>T, NP_056183.2:p.Arg300Gln, NP_056183.2:p.Arg300Leu, XP_011541036.1:p.Arg158Gln, XP_011541036.1:p.Arg158Leu, XP_047282658.1:p.Arg158Gln, XP_047282658.1:p.Arg158Leu

Select item 14823460224.

rs1482346022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94178525 (GRCh38)
11:93911691 (GRCh37)
Canonical SPDI:: NC_000011.10:94178524:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94178525G>A, NC_000011.9:g.93911691G>A, NG_027936.1:g.54598G>A, NM_015368.4:c.478G>A, NM_015368.3:c.478G>A, XM_011542734.3:c.52G>A, XM_011542734.2:c.52G>A, XM_011542734.1:c.52G>A, XM_047426702.1:c.52G>A, NP_056183.2:p.Ala160Thr, XP_011541036.1:p.Ala18Thr, XP_047282658.1:p.Ala18Thr

Select item 14810991845.

rs1481099184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94179901 (GRCh38)
11:93913067 (GRCh37)
Canonical SPDI:: NC_000011.10:94179900:T:C
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94179901T>C, NC_000011.9:g.93913067T>C, NG_027936.1:g.55974T>C, NM_015368.4:c.845T>C, NM_015368.3:c.845T>C, XM_011542734.3:c.419T>C, XM_011542734.2:c.419T>C, XM_011542734.1:c.419T>C, XM_047426702.1:c.419T>C, NP_056183.2:p.Val282Ala, XP_011541036.1:p.Val140Ala, XP_047282658.1:p.Val140Ala

Select item 14808898416.

rs1480889841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94179974 (GRCh38)
11:93913140 (GRCh37)
Canonical SPDI:: NC_000011.10:94179973:C:G
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94179974C>G, NC_000011.9:g.93913140C>G, NG_027936.1:g.56047C>G, NM_015368.4:c.918C>G, NM_015368.3:c.918C>G, XM_011542734.3:c.492C>G, XM_011542734.2:c.492C>G, XM_011542734.1:c.492C>G, XM_047426702.1:c.492C>G

Select item 14727839197.

rs1472783919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:94180848 (GRCh38)
11:93914014 (GRCh37)
Canonical SPDI:: NC_000011.10:94180847:A:T
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94180848A>T, NC_000011.9:g.93914014A>T, NG_027936.1:g.56921A>T, NM_015368.4:c.1260A>T, NM_015368.3:c.1260A>T, XM_011542734.3:c.834A>T, XM_011542734.2:c.834A>T, XM_011542734.1:c.834A>T, XM_047426702.1:c.834A>T, NP_056183.2:p.Arg420Ser, XP_011541036.1:p.Arg278Ser, XP_047282658.1:p.Arg278Ser

Select item 14703777518.

rs1470377751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:94179917 (GRCh38)
11:93913083 (GRCh37)
Canonical SPDI:: NC_000011.10:94179916:G:T
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.94179917G>T, NC_000011.9:g.93913083G>T, NG_027936.1:g.55990G>T, NM_015368.4:c.861G>T, NM_015368.3:c.861G>T, XM_011542734.3:c.435G>T, XM_011542734.2:c.435G>T, XM_011542734.1:c.435G>T, XM_047426702.1:c.435G>T

Select item 14686725519.

rs1468672551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94180161 (GRCh38)
11:93913327 (GRCh37)
Canonical SPDI:: NC_000011.10:94180160:A:G
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94180161A>G, NC_000011.9:g.93913327A>G, NG_027936.1:g.56234A>G, NM_015368.4:c.1105A>G, NM_015368.3:c.1105A>G, XM_011542734.3:c.679A>G, XM_011542734.2:c.679A>G, XM_011542734.1:c.679A>G, XM_047426702.1:c.679A>G, NP_056183.2:p.Asn369Asp, XP_011541036.1:p.Asn227Asp, XP_047282658.1:p.Asn227Asp

Select item 146657174410.

rs1466571744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:94180182 (GRCh38)
11:93913348 (GRCh37)
Canonical SPDI:: NC_000011.10:94180181:G:C
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.94180182G>C, NC_000011.9:g.93913348G>C, NG_027936.1:g.56255G>C, NM_015368.4:c.1126G>C, NM_015368.3:c.1126G>C, XM_011542734.3:c.700G>C, XM_011542734.2:c.700G>C, XM_011542734.1:c.700G>C, XM_047426702.1:c.700G>C, NP_056183.2:p.Asp376His, XP_011541036.1:p.Asp234His, XP_047282658.1:p.Asp234His

Select item 146301064011.

rs1463010640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:94179809 (GRCh38)
11:93912975 (GRCh37)
Canonical SPDI:: NC_000011.10:94179808:G:T
Gene:: PANX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94179809G>T, NC_000011.9:g.93912975G>T, NG_027936.1:g.55882G>T, NM_015368.4:c.753G>T, NM_015368.3:c.753G>T, XM_011542734.3:c.327G>T, XM_011542734.2:c.327G>T, XM_011542734.1:c.327G>T, XM_047426702.1:c.327G>T

Select item 144775777912.

rs1447757779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94178490 (GRCh38)
11:93911656 (GRCh37)
Canonical SPDI:: NC_000011.10:94178489:A:G
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94178490A>G, NC_000011.9:g.93911656A>G, NG_027936.1:g.54563A>G, NM_015368.4:c.443A>G, NM_015368.3:c.443A>G, XM_011542734.3:c.17A>G, XM_011542734.2:c.17A>G, XM_011542734.1:c.17A>G, XM_047426702.1:c.17A>G, NP_056183.2:p.Lys148Arg, XP_011541036.1:p.Lys6Arg, XP_047282658.1:p.Lys6Arg

Select item 144698391713.

rs1446983917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:94179747 (GRCh38)
11:93912913 (GRCh37)
Canonical SPDI:: NC_000011.10:94179746:C:G,NC_000011.10:94179746:C:T
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94179747C>G, NC_000011.10:g.94179747C>T, NC_000011.9:g.93912913C>G, NC_000011.9:g.93912913C>T, NG_027936.1:g.55820C>G, NG_027936.1:g.55820C>T, NM_015368.4:c.691C>G, NM_015368.4:c.691C>T, NM_015368.3:c.691C>G, NM_015368.3:c.691C>T, XM_011542734.3:c.265C>G, XM_011542734.3:c.265C>T, XM_011542734.2:c.265C>G, XM_011542734.2:c.265C>T, XM_011542734.1:c.265C>G, XM_011542734.1:c.265C>T, XM_047426702.1:c.265C>G, XM_047426702.1:c.265C>T, NP_056183.2:p.Leu231Val, XP_011541036.1:p.Leu89Val, XP_047282658.1:p.Leu89Val

Select item 144525410814.

rs1445254108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94178542 (GRCh38)
11:93911708 (GRCh37)
Canonical SPDI:: NC_000011.10:94178541:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.94178542G>A, NC_000011.9:g.93911708G>A, NG_027936.1:g.54615G>A, NM_015368.4:c.495G>A, NM_015368.3:c.495G>A, XM_011542734.3:c.69G>A, XM_011542734.2:c.69G>A, XM_011542734.1:c.69G>A, XM_047426702.1:c.69G>A, NP_056183.2:p.Met165Ile, XP_011541036.1:p.Met23Ile, XP_047282658.1:p.Met23Ile

Select item 143616679615.

rs1436166796 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:94180055 (GRCh38)
11:93913221 (GRCh37)
Canonical SPDI:: NC_000011.10:94180051:TCTCT:TCT
Gene:: PANX1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.94180053CT[1], NC_000011.9:g.93913219CT[1], NG_027936.1:g.56126CT[1], NM_015368.4:c.999_1000del, NM_015368.3:c.999_1000del, XM_011542734.3:c.573_574del, XM_011542734.2:c.573_574del, XM_011542734.1:c.573_574del, XM_047426702.1:c.573_574del, NP_056183.2:p.Phe334fs, XP_011541036.1:p.Phe192fs, XP_047282658.1:p.Phe192fs

Select item 143575956116.

rs1435759561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94180824 (GRCh38)
11:93913990 (GRCh37)
Canonical SPDI:: NC_000011.10:94180823:T:C
Gene:: PANX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94180824T>C, NC_000011.9:g.93913990T>C, NG_027936.1:g.56897T>C, NM_015368.4:c.1236T>C, NM_015368.3:c.1236T>C, XM_011542734.3:c.810T>C, XM_011542734.2:c.810T>C, XM_011542734.1:c.810T>C, XM_047426702.1:c.810T>C

Select item 143247651517.

rs1432476515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:94178477 (GRCh38)
11:93911643 (GRCh37)
Canonical SPDI:: NC_000011.10:94178476:G:A,NC_000011.10:94178476:G:C
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94178477G>A, NC_000011.10:g.94178477G>C, NC_000011.9:g.93911643G>A, NC_000011.9:g.93911643G>C, NG_027936.1:g.54550G>A, NG_027936.1:g.54550G>C, NM_015368.4:c.430G>A, NM_015368.4:c.430G>C, NM_015368.3:c.430G>A, NM_015368.3:c.430G>C, XM_011542734.3:c.4G>A, XM_011542734.3:c.4G>C, XM_011542734.2:c.4G>A, XM_011542734.2:c.4G>C, XM_011542734.1:c.4G>A, XM_011542734.1:c.4G>C, XM_047426702.1:c.4G>A, XM_047426702.1:c.4G>C, NP_056183.2:p.Glu144Lys, NP_056183.2:p.Glu144Gln, XP_011541036.1:p.Glu2Lys, XP_011541036.1:p.Glu2Gln, XP_047282658.1:p.Glu2Lys, XP_047282658.1:p.Glu2Gln

Select item 142782919618.

rs1427829196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:94178579 (GRCh38)
11:93911745 (GRCh37)
Canonical SPDI:: NC_000011.10:94178578:A:T
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94178579A>T, NC_000011.9:g.93911745A>T, NG_027936.1:g.54652A>T, NM_015368.4:c.532A>T, NM_015368.3:c.532A>T, XM_011542734.3:c.106A>T, XM_011542734.2:c.106A>T, XM_011542734.1:c.106A>T, XM_047426702.1:c.106A>T, NP_056183.2:p.Asn178Tyr, XP_011541036.1:p.Asn36Tyr, XP_047282658.1:p.Asn36Tyr

Select item 142486571319.

rs1424865713 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:94180070 (GRCh38)
11:93913236 (GRCh37)
Canonical SPDI:: NC_000011.10:94180069:T:
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94180070del, NC_000011.9:g.93913236del, NG_027936.1:g.56143del, NM_015368.4:c.1014del, NM_015368.3:c.1014del, XM_011542734.3:c.588del, XM_011542734.2:c.588del, XM_011542734.1:c.588del, XM_047426702.1:c.588del, NP_056183.2:p.Asn338fs, XP_011541036.1:p.Asn196fs, XP_047282658.1:p.Asn196fs

Select item 142383939020.

rs1423839390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94180005 (GRCh38)
11:93913171 (GRCh37)
Canonical SPDI:: NC_000011.10:94180004:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94180005G>A, NC_000011.9:g.93913171G>A, NG_027936.1:g.56078G>A, NM_015368.4:c.949G>A, NM_015368.3:c.949G>A, XM_011542734.3:c.523G>A, XM_011542734.2:c.523G>A, XM_011542734.1:c.523G>A, XM_047426702.1:c.523G>A, NP_056183.2:p.Val317Ile, XP_011541036.1:p.Val175Ile, XP_047282658.1:p.Val175Ile

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