SNP Links for Protein (Select 224493895) - SNP

Links from Protein

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Select item 14907565401.

rs1490756540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:33065990 (GRCh38)
11:33087536 (GRCh37)
Canonical SPDI:: NC_000011.10:33065989:T:G
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.33065990T>G, NC_000011.9:g.33087536T>G, NM_018393.4:c.1133T>G, NM_018393.3:c.1133T>G, XM_011520207.3:c.1133T>G, XM_011520207.2:c.1133T>G, XM_011520207.1:c.1133T>G, XM_011520205.3:c.1148T>G, XM_011520205.2:c.1148T>G, XM_011520205.1:c.1148T>G, XM_017017989.3:c.1148T>G, XM_017017989.2:c.1148T>G, XM_017017989.1:c.1148T>G, XM_011520206.3:c.1148T>G, XM_011520206.2:c.1148T>G, XM_011520206.1:c.1148T>G, XM_011520204.3:c.1148T>G, XM_011520204.2:c.1148T>G, XM_011520204.1:c.1148T>G, XM_017017990.2:c.1133T>G, XM_017017990.1:c.1133T>G, NM_001145541.1:c.1133T>G, XM_047427236.1:c.593T>G, XM_047427237.1:c.*27T>G, NP_060863.3:p.Leu378Trp, XP_011518509.1:p.Leu378Trp, XP_011518507.1:p.Leu383Trp, XP_016873478.1:p.Leu383Trp, XP_011518508.1:p.Leu383Trp, XP_011518506.1:p.Leu383Trp, XP_016873479.1:p.Leu378Trp, NP_001139013.1:p.Leu378Trp, XP_047283192.1:p.Leu198Trp

Select item 14902674572.

rs1490267457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33061601 (GRCh38)
11:33083147 (GRCh37)
Canonical SPDI:: NC_000011.10:33061600:G:A
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.33061601G>A, NC_000011.9:g.33083147G>A, NM_018393.4:c.847G>A, NM_018393.3:c.847G>A, XM_011520207.3:c.847G>A, XM_011520207.2:c.847G>A, XM_011520207.1:c.847G>A, XM_011520205.3:c.862G>A, XM_011520205.2:c.862G>A, XM_011520205.1:c.862G>A, XM_017017989.3:c.862G>A, XM_017017989.2:c.862G>A, XM_017017989.1:c.862G>A, XM_011520206.3:c.862G>A, XM_011520206.2:c.862G>A, XM_011520206.1:c.862G>A, XM_011520204.3:c.862G>A, XM_011520204.2:c.862G>A, XM_011520204.1:c.862G>A, XM_017017990.2:c.847G>A, XM_017017990.1:c.847G>A, NM_001145541.1:c.847G>A, XM_047427236.1:c.307G>A, NP_060863.3:p.Ala283Thr, XP_011518509.1:p.Ala283Thr, XP_011518507.1:p.Ala288Thr, XP_016873478.1:p.Ala288Thr, XP_011518508.1:p.Ala288Thr, XP_011518506.1:p.Ala288Thr, XP_016873479.1:p.Ala283Thr, NP_001139013.1:p.Ala283Thr, XP_047283192.1:p.Ala103Thr

Select item 14897534543.

rs1489753454 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33058123 (GRCh38)
11:33079669 (GRCh37)
Canonical SPDI:: NC_000011.10:33058122:A:G
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.33058123A>G, NC_000011.9:g.33079669A>G, NM_018393.4:c.622A>G, NM_018393.3:c.622A>G, XM_011520207.3:c.622A>G, XM_011520207.2:c.622A>G, XM_011520207.1:c.622A>G, XM_011520205.3:c.622A>G, XM_011520205.2:c.622A>G, XM_011520205.1:c.622A>G, XM_017017989.3:c.622A>G, XM_017017989.2:c.622A>G, XM_017017989.1:c.622A>G, XM_011520206.3:c.622A>G, XM_011520206.2:c.622A>G, XM_011520206.1:c.622A>G, XM_011520204.3:c.622A>G, XM_011520204.2:c.622A>G, XM_011520204.1:c.622A>G, XM_017017990.2:c.622A>G, XM_017017990.1:c.622A>G, NM_001145541.1:c.622A>G, XM_047427236.1:c.67A>G, XM_047427237.1:c.622A>G, NP_060863.3:p.Ile208Val, XP_011518509.1:p.Ile208Val, XP_011518507.1:p.Ile208Val, XP_016873478.1:p.Ile208Val, XP_011518508.1:p.Ile208Val, XP_011518506.1:p.Ile208Val, XP_016873479.1:p.Ile208Val, NP_001139013.1:p.Ile208Val, XP_047283192.1:p.Ile23Val, XP_047283193.1:p.Ile208Val

Select item 14890191414.

rs1489019141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:33061616 (GRCh38)
11:33083162 (GRCh37)
Canonical SPDI:: NC_000011.10:33061615:G:A,NC_000011.10:33061615:G:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,stop_gained
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.33061616G>A, NC_000011.10:g.33061616G>T, NC_000011.9:g.33083162G>A, NC_000011.9:g.33083162G>T, NM_018393.4:c.862G>A, NM_018393.4:c.862G>T, NM_018393.3:c.862G>A, NM_018393.3:c.862G>T, XM_011520207.3:c.862G>A, XM_011520207.3:c.862G>T, XM_011520207.2:c.862G>A, XM_011520207.2:c.862G>T, XM_011520207.1:c.862G>A, XM_011520207.1:c.862G>T, XM_011520205.3:c.877G>A, XM_011520205.3:c.877G>T, XM_011520205.2:c.877G>A, XM_011520205.2:c.877G>T, XM_011520205.1:c.877G>A, XM_011520205.1:c.877G>T, XM_017017989.3:c.877G>A, XM_017017989.3:c.877G>T, XM_017017989.2:c.877G>A, XM_017017989.2:c.877G>T, XM_017017989.1:c.877G>A, XM_017017989.1:c.877G>T, XM_011520206.3:c.877G>A, XM_011520206.3:c.877G>T, XM_011520206.2:c.877G>A, XM_011520206.2:c.877G>T, XM_011520206.1:c.877G>A, XM_011520206.1:c.877G>T, XM_011520204.3:c.877G>A, XM_011520204.3:c.877G>T, XM_011520204.2:c.877G>A, XM_011520204.2:c.877G>T, XM_011520204.1:c.877G>A, XM_011520204.1:c.877G>T, XM_017017990.2:c.862G>A, XM_017017990.2:c.862G>T, XM_017017990.1:c.862G>A, XM_017017990.1:c.862G>T, NM_001145541.1:c.862G>A, NM_001145541.1:c.862G>T, XM_047427236.1:c.322G>A, XM_047427236.1:c.322G>T, NP_060863.3:p.Gly288Arg, NP_060863.3:p.Gly288Ter, XP_011518509.1:p.Gly288Arg, XP_011518509.1:p.Gly288Ter, XP_011518507.1:p.Gly293Arg, XP_011518507.1:p.Gly293Ter, XP_016873478.1:p.Gly293Arg, XP_016873478.1:p.Gly293Ter, XP_011518508.1:p.Gly293Arg, XP_011518508.1:p.Gly293Ter, XP_011518506.1:p.Gly293Arg, XP_011518506.1:p.Gly293Ter, XP_016873479.1:p.Gly288Arg, XP_016873479.1:p.Gly288Ter, NP_001139013.1:p.Gly288Arg, NP_001139013.1:p.Gly288Ter, XP_047283192.1:p.Gly108Arg, XP_047283192.1:p.Gly108Ter

Select item 14854138595.

rs1485413859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:33057925 (GRCh38)
11:33079471 (GRCh37)
Canonical SPDI:: NC_000011.10:33057924:T:A
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33057925T>A, NC_000011.9:g.33079471T>A, NM_018393.4:c.424T>A, NM_018393.3:c.424T>A, XM_011520207.3:c.424T>A, XM_011520207.2:c.424T>A, XM_011520207.1:c.424T>A, XM_011520205.3:c.424T>A, XM_011520205.2:c.424T>A, XM_011520205.1:c.424T>A, XM_017017989.3:c.424T>A, XM_017017989.2:c.424T>A, XM_017017989.1:c.424T>A, XM_011520206.3:c.424T>A, XM_011520206.2:c.424T>A, XM_011520206.1:c.424T>A, XM_011520204.3:c.424T>A, XM_011520204.2:c.424T>A, XM_011520204.1:c.424T>A, XM_017017990.2:c.424T>A, XM_017017990.1:c.424T>A, NM_001145541.1:c.424T>A, XM_047427236.1:c.-132T>A, XM_047427237.1:c.424T>A, NP_060863.3:p.Leu142Ile, XP_011518509.1:p.Leu142Ile, XP_011518507.1:p.Leu142Ile, XP_016873478.1:p.Leu142Ile, XP_011518508.1:p.Leu142Ile, XP_011518506.1:p.Leu142Ile, XP_016873479.1:p.Leu142Ile, NP_001139013.1:p.Leu142Ile, XP_047283193.1:p.Leu142Ile

Select item 14848653986.

rs1484865398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:33061632 (GRCh38)
11:33083178 (GRCh37)
Canonical SPDI:: NC_000011.10:33061631:C:A,NC_000011.10:33061631:C:G
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.33061632C>A, NC_000011.10:g.33061632C>G, NC_000011.9:g.33083178C>A, NC_000011.9:g.33083178C>G, NM_018393.4:c.878C>A, NM_018393.4:c.878C>G, NM_018393.3:c.878C>A, NM_018393.3:c.878C>G, XM_011520207.3:c.878C>A, XM_011520207.3:c.878C>G, XM_011520207.2:c.878C>A, XM_011520207.2:c.878C>G, XM_011520207.1:c.878C>A, XM_011520207.1:c.878C>G, XM_011520205.3:c.893C>A, XM_011520205.3:c.893C>G, XM_011520205.2:c.893C>A, XM_011520205.2:c.893C>G, XM_011520205.1:c.893C>A, XM_011520205.1:c.893C>G, XM_017017989.3:c.893C>A, XM_017017989.3:c.893C>G, XM_017017989.2:c.893C>A, XM_017017989.2:c.893C>G, XM_017017989.1:c.893C>A, XM_017017989.1:c.893C>G, XM_011520206.3:c.893C>A, XM_011520206.3:c.893C>G, XM_011520206.2:c.893C>A, XM_011520206.2:c.893C>G, XM_011520206.1:c.893C>A, XM_011520206.1:c.893C>G, XM_011520204.3:c.893C>A, XM_011520204.3:c.893C>G, XM_011520204.2:c.893C>A, XM_011520204.2:c.893C>G, XM_011520204.1:c.893C>A, XM_011520204.1:c.893C>G, XM_017017990.2:c.878C>A, XM_017017990.2:c.878C>G, XM_017017990.1:c.878C>A, XM_017017990.1:c.878C>G, NM_001145541.1:c.878C>A, NM_001145541.1:c.878C>G, XM_047427236.1:c.338C>A, XM_047427236.1:c.338C>G, NP_060863.3:p.Ser293Tyr, NP_060863.3:p.Ser293Cys, XP_011518509.1:p.Ser293Tyr, XP_011518509.1:p.Ser293Cys, XP_011518507.1:p.Ser298Tyr, XP_011518507.1:p.Ser298Cys, XP_016873478.1:p.Ser298Tyr, XP_016873478.1:p.Ser298Cys, XP_011518508.1:p.Ser298Tyr, XP_011518508.1:p.Ser298Cys, XP_011518506.1:p.Ser298Tyr, XP_011518506.1:p.Ser298Cys, XP_016873479.1:p.Ser293Tyr, XP_016873479.1:p.Ser293Cys, NP_001139013.1:p.Ser293Tyr, NP_001139013.1:p.Ser293Cys, XP_047283192.1:p.Ser113Tyr, XP_047283192.1:p.Ser113Cys

Select item 14842188847.

rs1484218884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33065922 (GRCh38)
11:33087468 (GRCh37)
Canonical SPDI:: NC_000011.10:33065921:C:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.33065922C>T, NC_000011.9:g.33087468C>T, NM_018393.4:c.1065C>T, NM_018393.3:c.1065C>T, XM_011520207.3:c.1065C>T, XM_011520207.2:c.1065C>T, XM_011520207.1:c.1065C>T, XM_011520205.3:c.1080C>T, XM_011520205.2:c.1080C>T, XM_011520205.1:c.1080C>T, XM_017017989.3:c.1080C>T, XM_017017989.2:c.1080C>T, XM_017017989.1:c.1080C>T, XM_011520206.3:c.1080C>T, XM_011520206.2:c.1080C>T, XM_011520206.1:c.1080C>T, XM_011520204.3:c.1080C>T, XM_011520204.2:c.1080C>T, XM_011520204.1:c.1080C>T, XM_017017990.2:c.1065C>T, XM_017017990.1:c.1065C>T, NM_001145541.1:c.1065C>T, XM_047427236.1:c.525C>T, XM_047427237.1:c.868C>T, XP_047283193.1:p.His290Tyr

Select item 14826172398.

rs1482617239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:33072644 (GRCh38)
11:33094190 (GRCh37)
Canonical SPDI:: NC_000011.10:33072643:G:A,NC_000011.10:33072643:G:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33072644G>A, NC_000011.10:g.33072644G>T, NC_000011.9:g.33094190G>A, NC_000011.9:g.33094190G>T, NM_018393.4:c.1498G>A, NM_018393.4:c.1498G>T, NM_018393.3:c.1498G>A, NM_018393.3:c.1498G>T, XM_011520207.3:c.1498G>A, XM_011520207.3:c.1498G>T, XM_011520207.2:c.1498G>A, XM_011520207.2:c.1498G>T, XM_011520207.1:c.1498G>A, XM_011520207.1:c.1498G>T, XM_011520205.3:c.1513G>A, XM_011520205.3:c.1513G>T, XM_011520205.2:c.1513G>A, XM_011520205.2:c.1513G>T, XM_011520205.1:c.1513G>A, XM_011520205.1:c.1513G>T, XM_017017989.3:c.1513G>A, XM_017017989.3:c.1513G>T, XM_017017989.2:c.1513G>A, XM_017017989.2:c.1513G>T, XM_017017989.1:c.1513G>A, XM_017017989.1:c.1513G>T, XM_011520206.3:c.1513G>A, XM_011520206.3:c.1513G>T, XM_011520206.2:c.1513G>A, XM_011520206.2:c.1513G>T, XM_011520206.1:c.1513G>A, XM_011520206.1:c.1513G>T, XM_011520204.3:c.1513G>A, XM_011520204.3:c.1513G>T, XM_011520204.2:c.1513G>A, XM_011520204.2:c.1513G>T, XM_011520204.1:c.1513G>A, XM_011520204.1:c.1513G>T, XM_017017990.2:c.1498G>A, XM_017017990.2:c.1498G>T, XM_017017990.1:c.1498G>A, XM_017017990.1:c.1498G>T, NM_001145541.1:c.1498G>A, NM_001145541.1:c.1498G>T, XM_047427236.1:c.958G>A, XM_047427236.1:c.958G>T, NP_060863.3:p.Ala500Thr, NP_060863.3:p.Ala500Ser, XP_011518509.1:p.Ala500Thr, XP_011518509.1:p.Ala500Ser, XP_011518507.1:p.Ala505Thr, XP_011518507.1:p.Ala505Ser, XP_016873478.1:p.Ala505Thr, XP_016873478.1:p.Ala505Ser, XP_011518508.1:p.Ala505Thr, XP_011518508.1:p.Ala505Ser, XP_011518506.1:p.Ala505Thr, XP_011518506.1:p.Ala505Ser, XP_016873479.1:p.Ala500Thr, XP_016873479.1:p.Ala500Ser, NP_001139013.1:p.Ala500Thr, NP_001139013.1:p.Ala500Ser, XP_047283192.1:p.Ala320Thr, XP_047283192.1:p.Ala320Ser

Select item 14810813469.

rs1481081346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:33057955 (GRCh38)
11:33079501 (GRCh37)
Canonical SPDI:: NC_000011.10:33057954:C:G
Gene:: TCP11L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33057955C>G, NC_000011.9:g.33079501C>G, NM_018393.4:c.454C>G, NM_018393.3:c.454C>G, XM_011520207.3:c.454C>G, XM_011520207.2:c.454C>G, XM_011520207.1:c.454C>G, XM_011520205.3:c.454C>G, XM_011520205.2:c.454C>G, XM_011520205.1:c.454C>G, XM_017017989.3:c.454C>G, XM_017017989.2:c.454C>G, XM_017017989.1:c.454C>G, XM_011520206.3:c.454C>G, XM_011520206.2:c.454C>G, XM_011520206.1:c.454C>G, XM_011520204.3:c.454C>G, XM_011520204.2:c.454C>G, XM_011520204.1:c.454C>G, XM_017017990.2:c.454C>G, XM_017017990.1:c.454C>G, NM_001145541.1:c.454C>G, XM_047427236.1:c.-102C>G, XM_047427237.1:c.454C>G, NP_060863.3:p.Leu152Val, XP_011518509.1:p.Leu152Val, XP_011518507.1:p.Leu152Val, XP_016873478.1:p.Leu152Val, XP_011518508.1:p.Leu152Val, XP_011518506.1:p.Leu152Val, XP_016873479.1:p.Leu152Val, NP_001139013.1:p.Leu152Val, XP_047283193.1:p.Leu152Val

Select item 147962634610.

rs1479626346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:33068819 (GRCh38)
11:33090365 (GRCh37)
Canonical SPDI:: NC_000011.10:33068818:G:A
Gene:: TCP11L1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.33068819G>A, NC_000011.9:g.33090365G>A, NM_018393.4:c.1287G>A, NM_018393.3:c.1287G>A, XM_011520207.3:c.1287G>A, XM_011520207.2:c.1287G>A, XM_011520207.1:c.1287G>A, XM_011520205.3:c.1302G>A, XM_011520205.2:c.1302G>A, XM_011520205.1:c.1302G>A, XM_017017989.3:c.1302G>A, XM_017017989.2:c.1302G>A, XM_017017989.1:c.1302G>A, XM_011520206.3:c.1302G>A, XM_011520206.2:c.1302G>A, XM_011520206.1:c.1302G>A, XM_011520204.3:c.1302G>A, XM_011520204.2:c.1302G>A, XM_011520204.1:c.1302G>A, XM_017017990.2:c.1287G>A, XM_017017990.1:c.1287G>A, NM_001145541.1:c.1287G>A, XM_047427236.1:c.747G>A

Select item 147869043911.

rs1478690439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:33058008 (GRCh38)
11:33079554 (GRCh37)
Canonical SPDI:: NC_000011.10:33058007:A:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.33058008A>T, NC_000011.9:g.33079554A>T, NM_018393.4:c.507A>T, NM_018393.3:c.507A>T, XM_011520207.3:c.507A>T, XM_011520207.2:c.507A>T, XM_011520207.1:c.507A>T, XM_011520205.3:c.507A>T, XM_011520205.2:c.507A>T, XM_011520205.1:c.507A>T, XM_017017989.3:c.507A>T, XM_017017989.2:c.507A>T, XM_017017989.1:c.507A>T, XM_011520206.3:c.507A>T, XM_011520206.2:c.507A>T, XM_011520206.1:c.507A>T, XM_011520204.3:c.507A>T, XM_011520204.2:c.507A>T, XM_011520204.1:c.507A>T, XM_017017990.2:c.507A>T, XM_017017990.1:c.507A>T, NM_001145541.1:c.507A>T, XM_047427236.1:c.-49A>T, XM_047427237.1:c.507A>T

Select item 147732494812.

rs1477324948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:33054620 (GRCh38)
11:33076166 (GRCh37)
Canonical SPDI:: NC_000011.10:33054619:A:G,NC_000011.10:33054619:A:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.33054620A>G, NC_000011.10:g.33054620A>T, NC_000011.9:g.33076166A>G, NC_000011.9:g.33076166A>T, NM_018393.4:c.191A>G, NM_018393.4:c.191A>T, NM_018393.3:c.191A>G, NM_018393.3:c.191A>T, XM_011520207.3:c.191A>G, XM_011520207.3:c.191A>T, XM_011520207.2:c.191A>G, XM_011520207.2:c.191A>T, XM_011520207.1:c.191A>G, XM_011520207.1:c.191A>T, XM_011520205.3:c.191A>G, XM_011520205.3:c.191A>T, XM_011520205.2:c.191A>G, XM_011520205.2:c.191A>T, XM_011520205.1:c.191A>G, XM_011520205.1:c.191A>T, XM_017017989.3:c.191A>G, XM_017017989.3:c.191A>T, XM_017017989.2:c.191A>G, XM_017017989.2:c.191A>T, XM_017017989.1:c.191A>G, XM_017017989.1:c.191A>T, XM_011520206.3:c.191A>G, XM_011520206.3:c.191A>T, XM_011520206.2:c.191A>G, XM_011520206.2:c.191A>T, XM_011520206.1:c.191A>G, XM_011520206.1:c.191A>T, XM_011520204.3:c.191A>G, XM_011520204.3:c.191A>T, XM_011520204.2:c.191A>G, XM_011520204.2:c.191A>T, XM_011520204.1:c.191A>G, XM_011520204.1:c.191A>T, XM_017017990.2:c.191A>G, XM_017017990.2:c.191A>T, XM_017017990.1:c.191A>G, XM_017017990.1:c.191A>T, NM_001145541.1:c.191A>G, NM_001145541.1:c.191A>T, XM_047427237.1:c.191A>G, XM_047427237.1:c.191A>T, NP_060863.3:p.Glu64Gly, NP_060863.3:p.Glu64Val, XP_011518509.1:p.Glu64Gly, XP_011518509.1:p.Glu64Val, XP_011518507.1:p.Glu64Gly, XP_011518507.1:p.Glu64Val, XP_016873478.1:p.Glu64Gly, XP_016873478.1:p.Glu64Val, XP_011518508.1:p.Glu64Gly, XP_011518508.1:p.Glu64Val, XP_011518506.1:p.Glu64Gly, XP_011518506.1:p.Glu64Val, XP_016873479.1:p.Glu64Gly, XP_016873479.1:p.Glu64Val, NP_001139013.1:p.Glu64Gly, NP_001139013.1:p.Glu64Val, XP_047283193.1:p.Glu64Gly, XP_047283193.1:p.Glu64Val

Select item 147297273813.

rs1472972738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33054624 (GRCh38)
11:33076170 (GRCh37)
Canonical SPDI:: NC_000011.10:33054623:A:G
Gene:: TCP11L1 (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.33054624A>G, NC_000011.9:g.33076170A>G, NM_018393.4:c.195A>G, NM_018393.3:c.195A>G, XM_011520207.3:c.195A>G, XM_011520207.2:c.195A>G, XM_011520207.1:c.195A>G, XM_011520205.3:c.195A>G, XM_011520205.2:c.195A>G, XM_011520205.1:c.195A>G, XM_017017989.3:c.195A>G, XM_017017989.2:c.195A>G, XM_017017989.1:c.195A>G, XM_011520206.3:c.195A>G, XM_011520206.2:c.195A>G, XM_011520206.1:c.195A>G, XM_011520204.3:c.195A>G, XM_011520204.2:c.195A>G, XM_011520204.1:c.195A>G, XM_017017990.2:c.195A>G, XM_017017990.1:c.195A>G, NM_001145541.1:c.195A>G, XM_047427237.1:c.195A>G

Select item 147032703914.

rs1470327039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:33068791 (GRCh38)
11:33090337 (GRCh37)
Canonical SPDI:: NC_000011.10:33068790:A:G
Gene:: TCP11L1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.33068791A>G, NC_000011.9:g.33090337A>G, NM_018393.4:c.1259A>G, NM_018393.3:c.1259A>G, XM_011520207.3:c.1259A>G, XM_011520207.2:c.1259A>G, XM_011520207.1:c.1259A>G, XM_011520205.3:c.1274A>G, XM_011520205.2:c.1274A>G, XM_011520205.1:c.1274A>G, XM_017017989.3:c.1274A>G, XM_017017989.2:c.1274A>G, XM_017017989.1:c.1274A>G, XM_011520206.3:c.1274A>G, XM_011520206.2:c.1274A>G, XM_011520206.1:c.1274A>G, XM_011520204.3:c.1274A>G, XM_011520204.2:c.1274A>G, XM_011520204.1:c.1274A>G, XM_017017990.2:c.1259A>G, XM_017017990.1:c.1259A>G, NM_001145541.1:c.1259A>G, XM_047427236.1:c.719A>G, XM_047427237.1:c.*153A>G, NP_060863.3:p.Lys420Arg, XP_011518509.1:p.Lys420Arg, XP_011518507.1:p.Lys425Arg, XP_016873478.1:p.Lys425Arg, XP_011518508.1:p.Lys425Arg, XP_011518506.1:p.Lys425Arg, XP_016873479.1:p.Lys420Arg, NP_001139013.1:p.Lys420Arg, XP_047283192.1:p.Lys240Arg

Select item 146899261715.

rs1468992617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33043797 (GRCh38)
11:33065343 (GRCh37)
Canonical SPDI:: NC_000011.10:33043796:C:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_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.33043797C>T, NC_000011.9:g.33065343C>T, NM_018393.4:c.24C>T, NM_018393.3:c.24C>T, XM_011520207.3:c.24C>T, XM_011520207.2:c.24C>T, XM_011520207.1:c.24C>T, XM_011520205.3:c.24C>T, XM_011520205.2:c.24C>T, XM_011520205.1:c.24C>T, XM_017017989.3:c.24C>T, XM_017017989.2:c.24C>T, XM_017017989.1:c.24C>T, XM_011520206.3:c.24C>T, XM_011520206.2:c.24C>T, XM_011520206.1:c.24C>T, XM_011520204.3:c.24C>T, XM_011520204.2:c.24C>T, XM_011520204.1:c.24C>T, XM_017017990.2:c.24C>T, XM_017017990.1:c.24C>T, NM_001145541.1:c.24C>T, XM_047427237.1:c.24C>T

Select item 146042481816.

rs1460424818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:33065910 (GRCh38)
11:33087456 (GRCh37)
Canonical SPDI:: NC_000011.10:33065909:G:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33065910G>T, NC_000011.9:g.33087456G>T, NM_018393.4:c.1053G>T, NM_018393.3:c.1053G>T, XM_011520207.3:c.1053G>T, XM_011520207.2:c.1053G>T, XM_011520207.1:c.1053G>T, XM_011520205.3:c.1068G>T, XM_011520205.2:c.1068G>T, XM_011520205.1:c.1068G>T, XM_017017989.3:c.1068G>T, XM_017017989.2:c.1068G>T, XM_017017989.1:c.1068G>T, XM_011520206.3:c.1068G>T, XM_011520206.2:c.1068G>T, XM_011520206.1:c.1068G>T, XM_011520204.3:c.1068G>T, XM_011520204.2:c.1068G>T, XM_011520204.1:c.1068G>T, XM_017017990.2:c.1053G>T, XM_017017990.1:c.1053G>T, NM_001145541.1:c.1053G>T, XM_047427236.1:c.513G>T, XM_047427237.1:c.856G>T, XP_047283193.1:p.Gly286Cys

Select item 145880167517.

rs1458801675 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGATCC>- [Show Flanks]
Chromosome:: 11:33057183 (GRCh38)
11:33078729 (GRCh37)
Canonical SPDI:: NC_000011.10:33057182:AAGATCC:
Gene:: TCP11L1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.33057183_33057189del, NC_000011.9:g.33078729_33078735del, NM_018393.4:c.365_371del, NM_018393.3:c.365_371del, XM_011520207.3:c.365_371del, XM_011520207.2:c.365_371del, XM_011520207.1:c.365_371del, XM_011520205.3:c.365_371del, XM_011520205.2:c.365_371del, XM_011520205.1:c.365_371del, XM_017017989.3:c.365_371del, XM_017017989.2:c.365_371del, XM_017017989.1:c.365_371del, XM_011520206.3:c.365_371del, XM_011520206.2:c.365_371del, XM_011520206.1:c.365_371del, XM_011520204.3:c.365_371del, XM_011520204.2:c.365_371del, XM_011520204.1:c.365_371del, XM_017017990.2:c.365_371del, XM_017017990.1:c.365_371del, NM_001145541.1:c.365_371del, XM_047427236.1:c.-191_-185del, XM_047427237.1:c.365_371del, NP_060863.3:p.Glu122fs, XP_011518509.1:p.Glu122fs, XP_011518507.1:p.Glu122fs, XP_016873478.1:p.Glu122fs, XP_011518508.1:p.Glu122fs, XP_011518506.1:p.Glu122fs, XP_016873479.1:p.Glu122fs, NP_001139013.1:p.Glu122fs, XP_047283193.1:p.Glu122fs

Select item 145708611918.

rs1457086119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33072518 (GRCh38)
11:33094064 (GRCh37)
Canonical SPDI:: NC_000011.10:33072517:C:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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.33072518C>T, NC_000011.9:g.33094064C>T, NM_018393.4:c.1372C>T, NM_018393.3:c.1372C>T, XM_011520207.3:c.1372C>T, XM_011520207.2:c.1372C>T, XM_011520207.1:c.1372C>T, XM_011520205.3:c.1387C>T, XM_011520205.2:c.1387C>T, XM_011520205.1:c.1387C>T, XM_017017989.3:c.1387C>T, XM_017017989.2:c.1387C>T, XM_017017989.1:c.1387C>T, XM_011520206.3:c.1387C>T, XM_011520206.2:c.1387C>T, XM_011520206.1:c.1387C>T, XM_011520204.3:c.1387C>T, XM_011520204.2:c.1387C>T, XM_011520204.1:c.1387C>T, XM_017017990.2:c.1372C>T, XM_017017990.1:c.1372C>T, NM_001145541.1:c.1372C>T, XM_047427236.1:c.832C>T, NP_060863.3:p.His458Tyr, XP_011518509.1:p.His458Tyr, XP_011518507.1:p.His463Tyr, XP_016873478.1:p.His463Tyr, XP_011518508.1:p.His463Tyr, XP_011518506.1:p.His463Tyr, XP_016873479.1:p.His458Tyr, NP_001139013.1:p.His458Tyr, XP_047283192.1:p.His278Tyr

Select item 145475323219.

rs1454753232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33043915 (GRCh38)
11:33065461 (GRCh37)
Canonical SPDI:: NC_000011.10:33043914:C:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.33043915C>T, NC_000011.9:g.33065461C>T, NM_018393.4:c.142C>T, NM_018393.3:c.142C>T, XM_011520207.3:c.142C>T, XM_011520207.2:c.142C>T, XM_011520207.1:c.142C>T, XM_011520205.3:c.142C>T, XM_011520205.2:c.142C>T, XM_011520205.1:c.142C>T, XM_017017989.3:c.142C>T, XM_017017989.2:c.142C>T, XM_017017989.1:c.142C>T, XM_011520206.3:c.142C>T, XM_011520206.2:c.142C>T, XM_011520206.1:c.142C>T, XM_011520204.3:c.142C>T, XM_011520204.2:c.142C>T, XM_011520204.1:c.142C>T, XM_017017990.2:c.142C>T, XM_017017990.1:c.142C>T, NM_001145541.1:c.142C>T, XM_047427236.1:c.-281C>T, XM_047427237.1:c.142C>T, NP_060863.3:p.Gln48Ter, XP_011518509.1:p.Gln48Ter, XP_011518507.1:p.Gln48Ter, XP_016873478.1:p.Gln48Ter, XP_011518508.1:p.Gln48Ter, XP_011518506.1:p.Gln48Ter, XP_016873479.1:p.Gln48Ter, NP_001139013.1:p.Gln48Ter, XP_047283193.1:p.Gln48Ter

Select item 145415641620.

rs1454156416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:33072599 (GRCh38)
11:33094145 (GRCh37)
Canonical SPDI:: NC_000011.10:33072598:C:T
Gene:: TCP11L1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.33072599C>T, NC_000011.9:g.33094145C>T, NM_018393.4:c.1453C>T, NM_018393.3:c.1453C>T, XM_011520207.3:c.1453C>T, XM_011520207.2:c.1453C>T, XM_011520207.1:c.1453C>T, XM_011520205.3:c.1468C>T, XM_011520205.2:c.1468C>T, XM_011520205.1:c.1468C>T, XM_017017989.3:c.1468C>T, XM_017017989.2:c.1468C>T, XM_017017989.1:c.1468C>T, XM_011520206.3:c.1468C>T, XM_011520206.2:c.1468C>T, XM_011520206.1:c.1468C>T, XM_011520204.3:c.1468C>T, XM_011520204.2:c.1468C>T, XM_011520204.1:c.1468C>T, XM_017017990.2:c.1453C>T, XM_017017990.1:c.1453C>T, NM_001145541.1:c.1453C>T, XM_047427236.1:c.913C>T, NP_060863.3:p.Arg485Cys, XP_011518509.1:p.Arg485Cys, XP_011518507.1:p.Arg490Cys, XP_016873478.1:p.Arg490Cys, XP_011518508.1:p.Arg490Cys, XP_011518506.1:p.Arg490Cys, XP_016873479.1:p.Arg485Cys, NP_001139013.1:p.Arg485Cys, XP_047283192.1:p.Arg305Cys

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