SNP Links for Protein (Select 15431328) - SNP

Links from Protein

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Select item 14905387161.

rs1490538716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105029217 (GRCh38)
11:104899944 (GRCh37)
Canonical SPDI:: NC_000011.10:105029216:G:A
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.105029217G>A, NC_000011.9:g.104899944G>A, NG_029124.2:g.10914C>T, NM_001223.5:c.850C>T, NM_001223.4:c.850C>T, NM_033292.4:c.913C>T, NM_033292.3:c.913C>T, NM_033293.4:c.634C>T, NM_033293.3:c.634C>T, NM_001257118.3:c.913C>T, NM_001257118.2:c.913C>T, NM_001257118.1:c.913C>T, NM_001257119.3:c.850C>T, NM_001257119.2:c.850C>T, NM_001257119.1:c.850C>T, XM_017018396.2:c.823C>T, XM_017018396.1:c.823C>T, XM_017018393.2:c.1045C>T, XM_017018393.1:c.904C>T, XM_017018394.2:c.1045C>T, XM_017018394.1:c.904C>T, XM_017018395.2:c.982C>T, XM_017018395.1:c.841C>T, XM_047427675.1:c.865C>T

Select item 14903595522.

rs1490359552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:105033099 (GRCh38)
11:104903826 (GRCh37)
Canonical SPDI:: NC_000011.10:105033098:A:G
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.105033099A>G, NC_000011.9:g.104903826A>G, NG_029124.2:g.7032T>C, NM_033292.4:c.302T>C, NM_033292.3:c.302T>C, NM_001257118.3:c.302T>C, NM_001257118.2:c.302T>C, NM_001257118.1:c.302T>C, XM_017018396.2:c.212T>C, XM_017018396.1:c.212T>C, XM_017018393.2:c.434T>C, XM_017018393.1:c.293T>C, XM_017018394.2:c.434T>C, XM_017018394.1:c.293T>C, XM_047427675.1:c.254T>C, NP_150634.1:p.Met101Thr, NP_001244047.1:p.Met101Thr, XP_016873885.1:p.Met71Thr, XP_016873882.2:p.Met145Thr, XP_016873883.2:p.Met145Thr, XP_047283631.1:p.Met85Thr

Select item 14895483773.

rs1489548377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:105026867 (GRCh38)
11:104897594 (GRCh37)
Canonical SPDI:: NC_000011.10:105026866:C:T
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.105026867C>T, NC_000011.9:g.104897594C>T, NG_029124.2:g.13264G>A, NM_001223.5:c.1028G>A, NM_001223.4:c.1028G>A, NM_033292.4:c.1091G>A, NM_033292.3:c.1091G>A, NM_033293.4:c.812G>A, NM_033293.3:c.812G>A, NM_033294.4:c.668G>A, NM_033294.3:c.668G>A, NM_033295.4:c.143G>A, NM_033295.3:c.143G>A, NM_001257118.3:c.1091G>A, NM_001257118.2:c.1091G>A, NM_001257118.1:c.1091G>A, NM_001257119.3:c.1028G>A, NM_001257119.2:c.1028G>A, NM_001257119.1:c.1028G>A, XM_017018396.2:c.1001G>A, XM_017018396.1:c.1001G>A, XM_017018393.2:c.1223G>A, XM_017018393.1:c.1082G>A, XM_017018394.2:c.1223G>A, XM_017018394.1:c.1082G>A, XM_017018395.2:c.1160G>A, XM_017018395.1:c.1019G>A, XM_047427675.1:c.1043G>A, NP_001214.1:p.Cys343Tyr, NP_150634.1:p.Cys364Tyr, NP_150635.1:p.Cys271Tyr, NP_150636.1:p.Cys223Tyr, NP_150637.1:p.Cys48Tyr, NP_001244047.1:p.Cys364Tyr, NP_001244048.1:p.Cys343Tyr, XP_016873885.1:p.Cys334Tyr, XP_016873882.2:p.Cys408Tyr, XP_016873883.2:p.Cys408Tyr, XP_016873884.2:p.Cys387Tyr, XP_047283631.1:p.Cys348Tyr

Select item 14889585014.

rs1488958501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105029867 (GRCh38)
11:104900594 (GRCh37)
Canonical SPDI:: NC_000011.10:105029866:G:A
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105029867G>A, NC_000011.9:g.104900594G>A, NG_029124.2:g.10264C>T, NM_001223.5:c.597C>T, NM_001223.4:c.597C>T, NM_033292.4:c.660C>T, NM_033292.3:c.660C>T, NM_033293.4:c.381C>T, NM_033293.3:c.381C>T, NM_033294.4:c.381C>T, NM_033294.3:c.381C>T, NM_001257118.3:c.660C>T, NM_001257118.2:c.660C>T, NM_001257118.1:c.660C>T, NM_001257119.3:c.597C>T, NM_001257119.2:c.597C>T, NM_001257119.1:c.597C>T, XM_017018396.2:c.570C>T, XM_017018396.1:c.570C>T, XM_017018393.2:c.792C>T, XM_017018393.1:c.651C>T, XM_017018394.2:c.792C>T, XM_017018394.1:c.651C>T, XM_017018395.2:c.729C>T, XM_017018395.1:c.588C>T, XM_047427675.1:c.612C>T

Select item 14871122805.

rs1487112280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:105031194 (GRCh38)
11:104901921 (GRCh37)
Canonical SPDI:: NC_000011.10:105031193:G:A,NC_000011.10:105031193:G:C
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.105031194G>A, NC_000011.10:g.105031194G>C, NC_000011.9:g.104901921G>A, NC_000011.9:g.104901921G>C, NG_029124.2:g.8937C>T, NG_029124.2:g.8937C>G, NM_001223.5:c.361C>T, NM_001223.5:c.361C>G, NM_001223.4:c.361C>T, NM_001223.4:c.361C>G, NM_033292.4:c.424C>T, NM_033292.4:c.424C>G, NM_033292.3:c.424C>T, NM_033292.3:c.424C>G, NM_033293.4:c.145C>T, NM_033293.4:c.145C>G, NM_033293.3:c.145C>T, NM_033293.3:c.145C>G, NM_033294.4:c.145C>T, NM_033294.4:c.145C>G, NM_033294.3:c.145C>T, NM_033294.3:c.145C>G, NM_001257118.3:c.424C>T, NM_001257118.3:c.424C>G, NM_001257118.2:c.424C>T, NM_001257118.2:c.424C>G, NM_001257118.1:c.424C>T, NM_001257118.1:c.424C>G, NM_001257119.3:c.361C>T, NM_001257119.3:c.361C>G, NM_001257119.2:c.361C>T, NM_001257119.2:c.361C>G, NM_001257119.1:c.361C>T, NM_001257119.1:c.361C>G, XM_017018396.2:c.334C>T, XM_017018396.2:c.334C>G, XM_017018396.1:c.334C>T, XM_017018396.1:c.334C>G, XM_017018393.2:c.556C>T, XM_017018393.2:c.556C>G, XM_017018393.1:c.415C>T, XM_017018393.1:c.415C>G, XM_017018394.2:c.556C>T, XM_017018394.2:c.556C>G, XM_017018394.1:c.415C>T, XM_017018394.1:c.415C>G, XM_017018395.2:c.493C>T, XM_017018395.2:c.493C>G, XM_017018395.1:c.352C>T, XM_017018395.1:c.352C>G, XM_047427675.1:c.376C>T, XM_047427675.1:c.376C>G, NP_001214.1:p.Gln121Ter, NP_001214.1:p.Gln121Glu, NP_150634.1:p.Gln142Ter, NP_150634.1:p.Gln142Glu, NP_150635.1:p.Gln49Ter, NP_150635.1:p.Gln49Glu, NP_150636.1:p.Gln49Ter, NP_150636.1:p.Gln49Glu, NP_001244047.1:p.Gln142Ter, NP_001244047.1:p.Gln142Glu, NP_001244048.1:p.Gln121Ter, NP_001244048.1:p.Gln121Glu, XP_016873885.1:p.Gln112Ter, XP_016873885.1:p.Gln112Glu, XP_016873882.2:p.Gln186Ter, XP_016873882.2:p.Gln186Glu, XP_016873883.2:p.Gln186Ter, XP_016873883.2:p.Gln186Glu, XP_016873884.2:p.Gln165Ter, XP_016873884.2:p.Gln165Glu, XP_047283631.1:p.Gln126Ter, XP_047283631.1:p.Gln126Glu

Select item 14843689776.

rs1484368977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:105026883 (GRCh38)
11:104897610 (GRCh37)
Canonical SPDI:: NC_000011.10:105026882:C:G
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105026883C>G, NC_000011.9:g.104897610C>G, NG_029124.2:g.13248G>C, NM_001223.5:c.1012G>C, NM_001223.4:c.1012G>C, NM_033292.4:c.1075G>C, NM_033292.3:c.1075G>C, NM_033293.4:c.796G>C, NM_033293.3:c.796G>C, NM_033294.4:c.652G>C, NM_033294.3:c.652G>C, NM_033295.4:c.127G>C, NM_033295.3:c.127G>C, NM_001257118.3:c.1075G>C, NM_001257118.2:c.1075G>C, NM_001257118.1:c.1075G>C, NM_001257119.3:c.1012G>C, NM_001257119.2:c.1012G>C, NM_001257119.1:c.1012G>C, XM_017018396.2:c.985G>C, XM_017018396.1:c.985G>C, XM_017018393.2:c.1207G>C, XM_017018393.1:c.1066G>C, XM_017018394.2:c.1207G>C, XM_017018394.1:c.1066G>C, XM_017018395.2:c.1144G>C, XM_017018395.1:c.1003G>C, XM_047427675.1:c.1027G>C, NP_001214.1:p.Glu338Gln, NP_150634.1:p.Glu359Gln, NP_150635.1:p.Glu266Gln, NP_150636.1:p.Glu218Gln, NP_150637.1:p.Glu43Gln, NP_001244047.1:p.Glu359Gln, NP_001244048.1:p.Glu338Gln, XP_016873885.1:p.Glu329Gln, XP_016873882.2:p.Glu403Gln, XP_016873883.2:p.Glu403Gln, XP_016873884.2:p.Glu382Gln, XP_047283631.1:p.Glu343Gln

Select item 14807824707.

rs1480782470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:105030370 (GRCh38)
11:104901097 (GRCh37)
Canonical SPDI:: NC_000011.10:105030369:A:G
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.105030370A>G, NC_000011.9:g.104901097A>G, NG_029124.2:g.9761T>C, NM_001223.5:c.524T>C, NM_001223.4:c.524T>C, NM_033292.4:c.587T>C, NM_033292.3:c.587T>C, NM_033293.4:c.308T>C, NM_033293.3:c.308T>C, NM_033294.4:c.308T>C, NM_033294.3:c.308T>C, NM_001257118.3:c.587T>C, NM_001257118.2:c.587T>C, NM_001257118.1:c.587T>C, NM_001257119.3:c.524T>C, NM_001257119.2:c.524T>C, NM_001257119.1:c.524T>C, XM_017018396.2:c.497T>C, XM_017018396.1:c.497T>C, XM_017018393.2:c.719T>C, XM_017018393.1:c.578T>C, XM_017018394.2:c.719T>C, XM_017018394.1:c.578T>C, XM_017018395.2:c.656T>C, XM_017018395.1:c.515T>C, XM_047427675.1:c.539T>C, NP_001214.1:p.Leu175Pro, NP_150634.1:p.Leu196Pro, NP_150635.1:p.Leu103Pro, NP_150636.1:p.Leu103Pro, NP_001244047.1:p.Leu196Pro, NP_001244048.1:p.Leu175Pro, XP_016873885.1:p.Leu166Pro, XP_016873882.2:p.Leu240Pro, XP_016873883.2:p.Leu240Pro, XP_016873884.2:p.Leu219Pro, XP_047283631.1:p.Leu180Pro

Select item 14775589898.

rs1477558989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:105029159 (GRCh38)
11:104899886 (GRCh37)
Canonical SPDI:: NC_000011.10:105029158:T:C
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105029159T>C, NC_000011.9:g.104899886T>C, NG_029124.2:g.10972A>G, NM_001223.5:c.908A>G, NM_001223.4:c.908A>G, NM_033292.4:c.971A>G, NM_033292.3:c.971A>G, NM_033293.4:c.692A>G, NM_033293.3:c.692A>G, NM_001257118.3:c.971A>G, NM_001257118.2:c.971A>G, NM_001257118.1:c.971A>G, NM_001257119.3:c.908A>G, NM_001257119.2:c.908A>G, NM_001257119.1:c.908A>G, XM_017018396.2:c.881A>G, XM_017018396.1:c.881A>G, XM_017018393.2:c.1103A>G, XM_017018393.1:c.962A>G, XM_017018394.2:c.1103A>G, XM_017018394.1:c.962A>G, XM_017018395.2:c.1040A>G, XM_017018395.1:c.899A>G, XM_047427675.1:c.923A>G, NP_001214.1:p.Glu303Gly, NP_150634.1:p.Glu324Gly, NP_150635.1:p.Glu231Gly, NP_001244047.1:p.Glu324Gly, NP_001244048.1:p.Glu303Gly, XP_016873885.1:p.Glu294Gly, XP_016873882.2:p.Glu368Gly, XP_016873883.2:p.Glu368Gly, XP_016873884.2:p.Glu347Gly, XP_047283631.1:p.Glu308Gly

Select item 14773843329.

rs1477384332 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCTG>- [Show Flanks]
Chromosome:: 11:105031262 (GRCh38)
11:104901989 (GRCh37)
Canonical SPDI:: NC_000011.10:105031259:TGTCCTG:TG
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.105031262_105031266del, NC_000011.9:g.104901989_104901993del, NG_029124.2:g.8867_8871del, NM_001223.5:c.291_295del, NM_001223.4:c.291_295del, NM_033292.4:c.354_358del, NM_033292.3:c.354_358del, NM_033293.4:c.75_79del, NM_033293.3:c.75_79del, NM_033294.4:c.75_79del, NM_033294.3:c.75_79del, NM_001257118.3:c.354_358del, NM_001257118.2:c.354_358del, NM_001257118.1:c.354_358del, NM_001257119.3:c.291_295del, NM_001257119.2:c.291_295del, NM_001257119.1:c.291_295del, XM_017018396.2:c.264_268del, XM_017018396.1:c.264_268del, XM_017018393.2:c.486_490del, XM_017018393.1:c.345_349del, XM_017018394.2:c.486_490del, XM_017018394.1:c.345_349del, XM_017018395.2:c.423_427del, XM_017018395.1:c.282_286del, XM_047427675.1:c.306_310del, NP_001214.1:p.Asp98fs, NP_150634.1:p.Asp119fs, NP_150635.1:p.Asp26fs, NP_150636.1:p.Asp26fs, NP_001244047.1:p.Asp119fs, NP_001244048.1:p.Asp98fs, XP_016873885.1:p.Asp89fs, XP_016873882.2:p.Asp163fs, XP_016873883.2:p.Asp163fs, XP_016873884.2:p.Asp142fs, XP_047283631.1:p.Asp103fs

Select item 147721803210.

rs1477218032 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:105026910 (GRCh38)
11:104897637 (GRCh37)
Canonical SPDI:: NC_000011.10:105026909:T:
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105026910del, NC_000011.9:g.104897637del, NG_029124.2:g.13221del, NM_001223.5:c.985del, NM_001223.4:c.985del, NM_033292.4:c.1048del, NM_033292.3:c.1048del, NM_033293.4:c.769del, NM_033293.3:c.769del, NM_033294.4:c.625del, NM_033294.3:c.625del, NM_033295.4:c.100del, NM_033295.3:c.100del, NM_001257118.3:c.1048del, NM_001257118.2:c.1048del, NM_001257118.1:c.1048del, NM_001257119.3:c.985del, NM_001257119.2:c.985del, NM_001257119.1:c.985del, XM_017018396.2:c.958del, XM_017018396.1:c.958del, XM_017018393.2:c.1180del, XM_017018393.1:c.1039del, XM_017018394.2:c.1180del, XM_017018394.1:c.1039del, XM_017018395.2:c.1117del, XM_017018395.1:c.976del, XM_047427675.1:c.1000del, NP_001214.1:p.Ile329fs, NP_150634.1:p.Ile350fs, NP_150635.1:p.Ile257fs, NP_150636.1:p.Ile209fs, NP_150637.1:p.Ile34fs, NP_001244047.1:p.Ile350fs, NP_001244048.1:p.Ile329fs, XP_016873885.1:p.Ile320fs, XP_016873882.2:p.Ile394fs, XP_016873883.2:p.Ile394fs, XP_016873884.2:p.Ile373fs, XP_047283631.1:p.Ile334fs

Select item 147575092811.

rs1475750928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:105034248 (GRCh38)
11:104904975 (GRCh37)
Canonical SPDI:: NC_000011.10:105034247:T:C
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.105034248T>C, NC_000011.9:g.104904975T>C, NG_029124.2:g.5883A>G, NM_001223.5:c.234A>G, NM_001223.4:c.234A>G, NM_033292.4:c.234A>G, NM_033292.3:c.234A>G, NM_001257118.3:c.234A>G, NM_001257118.2:c.234A>G, NM_001257118.1:c.234A>G, NM_001257119.3:c.234A>G, NM_001257119.2:c.234A>G, NM_001257119.1:c.234A>G, XM_017018396.2:c.144A>G, XM_017018396.1:c.144A>G, XM_017018393.2:c.366A>G, XM_017018393.1:c.225A>G, XM_017018394.2:c.366A>G, XM_017018394.1:c.225A>G, XM_017018395.2:c.366A>G, XM_017018395.1:c.225A>G, XM_047427675.1:c.186A>G

Select item 147400940312.

rs1474009403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:105029254 (GRCh38)
11:104899981 (GRCh37)
Canonical SPDI:: NC_000011.10:105029253:C:G
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105029254C>G, NC_000011.9:g.104899981C>G, NG_029124.2:g.10877G>C, NM_001223.5:c.813G>C, NM_001223.4:c.813G>C, NM_033292.4:c.876G>C, NM_033292.3:c.876G>C, NM_033293.4:c.597G>C, NM_033293.3:c.597G>C, NM_001257118.3:c.876G>C, NM_001257118.2:c.876G>C, NM_001257118.1:c.876G>C, NM_001257119.3:c.813G>C, NM_001257119.2:c.813G>C, NM_001257119.1:c.813G>C, XM_017018396.2:c.786G>C, XM_017018396.1:c.786G>C, XM_017018393.2:c.1008G>C, XM_017018393.1:c.867G>C, XM_017018394.2:c.1008G>C, XM_017018394.1:c.867G>C, XM_017018395.2:c.945G>C, XM_017018395.1:c.804G>C, XM_047427675.1:c.828G>C

Select item 146704593413.

rs1467045934 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:105029737 (GRCh38)
11:104900464 (GRCh37)
Canonical SPDI:: NC_000011.10:105029736:T:C
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105029737T>C, NC_000011.9:g.104900464T>C, NG_029124.2:g.10394A>G, NM_001223.5:c.727A>G, NM_001223.4:c.727A>G, NM_033292.4:c.790A>G, NM_033292.3:c.790A>G, NM_033293.4:c.511A>G, NM_033293.3:c.511A>G, NM_033294.4:c.511A>G, NM_033294.3:c.511A>G, NM_001257118.3:c.790A>G, NM_001257118.2:c.790A>G, NM_001257118.1:c.790A>G, NM_001257119.3:c.727A>G, NM_001257119.2:c.727A>G, NM_001257119.1:c.727A>G, XM_017018396.2:c.700A>G, XM_017018396.1:c.700A>G, XM_017018393.2:c.922A>G, XM_017018393.1:c.781A>G, XM_017018394.2:c.922A>G, XM_017018394.1:c.781A>G, XM_017018395.2:c.859A>G, XM_017018395.1:c.718A>G, XM_047427675.1:c.742A>G, NP_001214.1:p.Met243Val, NP_150634.1:p.Met264Val, NP_150635.1:p.Met171Val, NP_150636.1:p.Met171Val, NP_001244047.1:p.Met264Val, NP_001244048.1:p.Met243Val, XP_016873885.1:p.Met234Val, XP_016873882.2:p.Met308Val, XP_016873883.2:p.Met308Val, XP_016873884.2:p.Met287Val, XP_047283631.1:p.Met248Val

Select item 146391753514.

rs1463917535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:105029774 (GRCh38)
11:104900501 (GRCh37)
Canonical SPDI:: NC_000011.10:105029773:T:G
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.105029774T>G, NC_000011.9:g.104900501T>G, NG_029124.2:g.10357A>C, NM_001223.5:c.690A>C, NM_001223.4:c.690A>C, NM_033292.4:c.753A>C, NM_033292.3:c.753A>C, NM_033293.4:c.474A>C, NM_033293.3:c.474A>C, NM_033294.4:c.474A>C, NM_033294.3:c.474A>C, NM_001257118.3:c.753A>C, NM_001257118.2:c.753A>C, NM_001257118.1:c.753A>C, NM_001257119.3:c.690A>C, NM_001257119.2:c.690A>C, NM_001257119.1:c.690A>C, XM_017018396.2:c.663A>C, XM_017018396.1:c.663A>C, XM_017018393.2:c.885A>C, XM_017018393.1:c.744A>C, XM_017018394.2:c.885A>C, XM_017018394.1:c.744A>C, XM_017018395.2:c.822A>C, XM_017018395.1:c.681A>C, XM_047427675.1:c.705A>C, NP_001214.1:p.Gln230His, NP_150634.1:p.Gln251His, NP_150635.1:p.Gln158His, NP_150636.1:p.Gln158His, NP_001244047.1:p.Gln251His, NP_001244048.1:p.Gln230His, XP_016873885.1:p.Gln221His, XP_016873882.2:p.Gln295His, XP_016873883.2:p.Gln295His, XP_016873884.2:p.Gln274His, XP_047283631.1:p.Gln235His

Select item 145674406315.

rs1456744063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:105029696 (GRCh38)
11:104900423 (GRCh37)
Canonical SPDI:: NC_000011.10:105029695:C:T
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105029696C>T, NC_000011.9:g.104900423C>T, NG_029124.2:g.10435G>A, NM_001223.5:c.768G>A, NM_001223.4:c.768G>A, NM_033292.4:c.831G>A, NM_033292.3:c.831G>A, NM_033293.4:c.552G>A, NM_033293.3:c.552G>A, NM_033294.4:c.552G>A, NM_033294.3:c.552G>A, NM_001257118.3:c.831G>A, NM_001257118.2:c.831G>A, NM_001257118.1:c.831G>A, NM_001257119.3:c.768G>A, NM_001257119.2:c.768G>A, NM_001257119.1:c.768G>A, XM_017018396.2:c.741G>A, XM_017018396.1:c.741G>A, XM_017018393.2:c.963G>A, XM_017018393.1:c.822G>A, XM_017018394.2:c.963G>A, XM_017018394.1:c.822G>A, XM_017018395.2:c.900G>A, XM_017018395.1:c.759G>A, XM_047427675.1:c.783G>A

Select item 145172640816.

rs1451726408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:105029799 (GRCh38)
11:104900526 (GRCh37)
Canonical SPDI:: NC_000011.10:105029798:A:G
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105029799A>G, NC_000011.9:g.104900526A>G, NG_029124.2:g.10332T>C, NM_001223.5:c.665T>C, NM_001223.4:c.665T>C, NM_033292.4:c.728T>C, NM_033292.3:c.728T>C, NM_033293.4:c.449T>C, NM_033293.3:c.449T>C, NM_033294.4:c.449T>C, NM_033294.3:c.449T>C, NM_001257118.3:c.728T>C, NM_001257118.2:c.728T>C, NM_001257118.1:c.728T>C, NM_001257119.3:c.665T>C, NM_001257119.2:c.665T>C, NM_001257119.1:c.665T>C, XM_017018396.2:c.638T>C, XM_017018396.1:c.638T>C, XM_017018393.2:c.860T>C, XM_017018393.1:c.719T>C, XM_017018394.2:c.860T>C, XM_017018394.1:c.719T>C, XM_017018395.2:c.797T>C, XM_017018395.1:c.656T>C, XM_047427675.1:c.680T>C, NP_001214.1:p.Ile222Thr, NP_150634.1:p.Ile243Thr, NP_150635.1:p.Ile150Thr, NP_150636.1:p.Ile150Thr, NP_001244047.1:p.Ile243Thr, NP_001244048.1:p.Ile222Thr, XP_016873885.1:p.Ile213Thr, XP_016873882.2:p.Ile287Thr, XP_016873883.2:p.Ile287Thr, XP_016873884.2:p.Ile266Thr, XP_047283631.1:p.Ile227Thr

Select item 144853860917.

rs1448538609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:105026288 (GRCh38)
11:104897015 (GRCh37)
Canonical SPDI:: NC_000011.10:105026287:T:C
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105026288T>C, NC_000011.9:g.104897015T>C, NG_029124.2:g.13843A>G, NM_001223.5:c.1122A>G, NM_001223.4:c.1122A>G, NM_033292.4:c.1185A>G, NM_033292.3:c.1185A>G, NM_033293.4:c.906A>G, NM_033293.3:c.906A>G, NM_033294.4:c.762A>G, NM_033294.3:c.762A>G, NM_033295.4:c.237A>G, NM_033295.3:c.237A>G, NM_001257118.3:c.1185A>G, NM_001257118.2:c.1185A>G, NM_001257118.1:c.1185A>G, NM_001257119.3:c.1122A>G, NM_001257119.2:c.1122A>G, NM_001257119.1:c.1122A>G, XM_017018396.2:c.1095A>G, XM_017018396.1:c.1095A>G, XM_017018393.2:c.1317A>G, XM_017018393.1:c.1176A>G, XM_017018394.2:c.1317A>G, XM_017018394.1:c.1176A>G, XM_017018395.2:c.1254A>G, XM_017018395.1:c.1113A>G, XM_047427675.1:c.1137A>G

Select item 144699274718.

rs1446992747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:105034338 (GRCh38)
11:104905065 (GRCh37)
Canonical SPDI:: NC_000011.10:105034337:A:G
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000108/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105034338A>G, NC_000011.9:g.104905065A>G, NG_029124.2:g.5793T>C, NM_001223.5:c.144T>C, NM_001223.4:c.144T>C, NM_033292.4:c.144T>C, NM_033292.3:c.144T>C, NM_001257118.3:c.144T>C, NM_001257118.2:c.144T>C, NM_001257118.1:c.144T>C, NM_001257119.3:c.144T>C, NM_001257119.2:c.144T>C, NM_001257119.1:c.144T>C, XM_017018396.2:c.54T>C, XM_017018396.1:c.54T>C, XM_017018393.2:c.276T>C, XM_017018393.1:c.135T>C, XM_017018394.2:c.276T>C, XM_017018394.1:c.135T>C, XM_017018395.2:c.276T>C, XM_017018395.1:c.135T>C, XM_047427675.1:c.96T>C

Select item 144664432719.

rs1446644327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:105034295 (GRCh38)
11:104905022 (GRCh37)
Canonical SPDI:: NC_000011.10:105034294:G:A
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.105034295G>A, NC_000011.9:g.104905022G>A, NG_029124.2:g.5836C>T, NM_001223.5:c.187C>T, NM_001223.4:c.187C>T, NM_033292.4:c.187C>T, NM_033292.3:c.187C>T, NM_001257118.3:c.187C>T, NM_001257118.2:c.187C>T, NM_001257118.1:c.187C>T, NM_001257119.3:c.187C>T, NM_001257119.2:c.187C>T, NM_001257119.1:c.187C>T, XM_017018396.2:c.97C>T, XM_017018396.1:c.97C>T, XM_017018393.2:c.319C>T, XM_017018393.1:c.178C>T, XM_017018394.2:c.319C>T, XM_017018394.1:c.178C>T, XM_017018395.2:c.319C>T, XM_017018395.1:c.178C>T, XM_047427675.1:c.139C>T, NP_001214.1:p.Pro63Ser, NP_150634.1:p.Pro63Ser, NP_001244047.1:p.Pro63Ser, NP_001244048.1:p.Pro63Ser, XP_016873885.1:p.Pro33Ser, XP_016873882.2:p.Pro107Ser, XP_016873883.2:p.Pro107Ser, XP_016873884.2:p.Pro107Ser, XP_047283631.1:p.Pro47Ser

Select item 143963806020.

rs1439638060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:105029148 (GRCh38)
11:104899875 (GRCh37)
Canonical SPDI:: NC_000011.10:105029147:T:A,NC_000011.10:105029147:T:C
Gene:: CASP1 (Varview), LOC124902742 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.105029148T>A, NC_000011.10:g.105029148T>C, NC_000011.9:g.104899875T>A, NC_000011.9:g.104899875T>C, NG_029124.2:g.10983A>T, NG_029124.2:g.10983A>G, NM_001223.5:c.919A>T, NM_001223.5:c.919A>G, NM_001223.4:c.919A>T, NM_001223.4:c.919A>G, NM_033292.4:c.982A>T, NM_033292.4:c.982A>G, NM_033292.3:c.982A>T, NM_033292.3:c.982A>G, NM_033293.4:c.703A>T, NM_033293.4:c.703A>G, NM_033293.3:c.703A>T, NM_033293.3:c.703A>G, NM_001257118.3:c.982A>T, NM_001257118.3:c.982A>G, NM_001257118.2:c.982A>T, NM_001257118.2:c.982A>G, NM_001257118.1:c.982A>T, NM_001257118.1:c.982A>G, NM_001257119.3:c.919A>T, NM_001257119.3:c.919A>G, NM_001257119.2:c.919A>T, NM_001257119.2:c.919A>G, NM_001257119.1:c.919A>T, NM_001257119.1:c.919A>G, XM_017018396.2:c.892A>T, XM_017018396.2:c.892A>G, XM_017018396.1:c.892A>T, XM_017018396.1:c.892A>G, XM_017018393.2:c.1114A>T, XM_017018393.2:c.1114A>G, XM_017018393.1:c.973A>T, XM_017018393.1:c.973A>G, XM_017018394.2:c.1114A>T, XM_017018394.2:c.1114A>G, XM_017018394.1:c.973A>T, XM_017018394.1:c.973A>G, XM_017018395.2:c.1051A>T, XM_017018395.2:c.1051A>G, XM_017018395.1:c.910A>T, XM_017018395.1:c.910A>G, XM_047427675.1:c.934A>T, XM_047427675.1:c.934A>G, NP_001214.1:p.Ile307Phe, NP_001214.1:p.Ile307Val, NP_150634.1:p.Ile328Phe, NP_150634.1:p.Ile328Val, NP_150635.1:p.Ile235Phe, NP_150635.1:p.Ile235Val, NP_001244047.1:p.Ile328Phe, NP_001244047.1:p.Ile328Val, NP_001244048.1:p.Ile307Phe, NP_001244048.1:p.Ile307Val, XP_016873885.1:p.Ile298Phe, XP_016873885.1:p.Ile298Val, XP_016873882.2:p.Ile372Phe, XP_016873882.2:p.Ile372Val, XP_016873883.2:p.Ile372Phe, XP_016873883.2:p.Ile372Val, XP_016873884.2:p.Ile351Phe, XP_016873884.2:p.Ile351Val, XP_047283631.1:p.Ile312Phe, XP_047283631.1:p.Ile312Val

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