SNP Links for Protein (Select 767968838) - SNP

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Links from Protein

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Select item 14869888451.

rs1486988845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:72434442 (GRCh38)
11:72145486 (GRCh37)
Canonical SPDI:: NC_000011.10:72434441:T:A
Gene:: CLPB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72434442T>A, NC_000011.9:g.72145486T>A, NG_042130.2:g.5243A>T, NM_030813.6:c.33A>T, NM_030813.5:c.33A>T, NM_030813.4:c.33A>T, NM_001258394.3:c.-210A>T, NM_001258394.2:c.-210A>T, NM_001258394.1:c.-210A>T, NM_001258392.3:c.33A>T, NM_001258392.2:c.33A>T, NM_001258392.1:c.33A>T, NM_001258393.3:c.33A>T, NM_001258393.2:c.33A>T, NM_001258393.1:c.33A>T, XM_011545289.3:c.33A>T, XM_011545289.2:c.33A>T, XM_011545289.1:c.33A>T, XM_005274320.2:c.33A>T, XM_005274320.1:c.33A>T, XM_047427656.1:c.-690A>T, XM_047427655.1:c.-210A>T

Select item 14868632552.

rs1486863255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:72434327 (GRCh38)
11:72145371 (GRCh37)
Canonical SPDI:: NC_000011.10:72434326:C:A
Gene:: CLPB (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=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72434327C>A, NC_000011.9:g.72145371C>A, NG_042130.2:g.5358G>T, NM_030813.6:c.148G>T, NM_030813.5:c.148G>T, NM_030813.4:c.148G>T, NM_001258394.3:c.-95G>T, NM_001258394.2:c.-95G>T, NM_001258394.1:c.-95G>T, NM_001258392.3:c.148G>T, NM_001258392.2:c.148G>T, NM_001258392.1:c.148G>T, NM_001258393.3:c.148G>T, NM_001258393.2:c.148G>T, NM_001258393.1:c.148G>T, XM_011545289.3:c.148G>T, XM_011545289.2:c.148G>T, XM_011545289.1:c.148G>T, XM_005274320.2:c.148G>T, XM_005274320.1:c.148G>T, XM_047427656.1:c.-575G>T, XM_047427655.1:c.-95G>T, NP_110440.1:p.Val50Leu, NP_001245321.1:p.Val50Leu, NP_001245322.1:p.Val50Leu, XP_011543591.1:p.Val50Leu, XP_005274377.1:p.Val50Leu

Select item 14818608023.

rs1481860802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72380311 (GRCh38)
11:72091355 (GRCh37)
Canonical SPDI:: NC_000011.10:72380310:C:T
Gene:: CLPB (Varview)
Functional Consequence:: coding_sequence_variant,missense_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)
HGVS:: NC_000011.10:g.72380311C>T, NC_000011.9:g.72091355C>T, NG_042130.2:g.59374G>A, NM_030813.6:c.616G>A, NM_030813.5:c.616G>A, NM_030813.4:c.616G>A, NM_001258394.3:c.481G>A, NM_001258394.2:c.481G>A, NM_001258394.1:c.481G>A, NM_001258392.3:c.616G>A, NM_001258392.2:c.616G>A, NM_001258392.1:c.616G>A, NM_001258393.3:c.529G>A, NM_001258393.2:c.529G>A, NM_001258393.1:c.529G>A, XM_011545289.3:c.616G>A, XM_011545289.2:c.616G>A, XM_011545289.1:c.616G>A, XM_005274320.2:c.529G>A, XM_005274320.1:c.529G>A, XM_047427656.1:c.103G>A, XM_047427655.1:c.481G>A, NP_110440.1:p.Ala206Thr, NP_001245323.1:p.Ala161Thr, NP_001245321.1:p.Ala206Thr, NP_001245322.1:p.Ala177Thr, XP_011543591.1:p.Ala206Thr, XP_005274377.1:p.Ala177Thr, XP_047283612.1:p.Ala35Thr, XP_047283611.1:p.Ala161Thr

Select item 14772138184.

rs1477213818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:72403037 (GRCh38)
11:72114081 (GRCh37)
Canonical SPDI:: NC_000011.10:72403036:A:G
Gene:: CLPB (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.72403037A>G, NC_000011.9:g.72114081A>G, NG_042130.2:g.36648T>C, NM_030813.6:c.471T>C, NM_030813.5:c.471T>C, NM_030813.4:c.471T>C, NM_001258394.3:c.336T>C, NM_001258394.2:c.336T>C, NM_001258394.1:c.336T>C, NM_001258392.3:c.471T>C, NM_001258392.2:c.471T>C, NM_001258392.1:c.471T>C, XM_011545289.3:c.471T>C, XM_011545289.2:c.471T>C, XM_011545289.1:c.471T>C, XM_047427656.1:c.-43T>C, XM_047427655.1:c.336T>C

Select item 14664359695.

rs1466435969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72329751 (GRCh38)
11:72040795 (GRCh37)
Canonical SPDI:: NC_000011.10:72329750:G:A
Gene:: CLPB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72329751G>A, NC_000011.9:g.72040795G>A, NG_042130.2:g.109934C>T, NM_030813.6:c.919C>T, NM_030813.5:c.919C>T, NM_030813.4:c.919C>T, NM_001258394.3:c.784C>T, NM_001258394.2:c.784C>T, NM_001258394.1:c.784C>T, NM_001258392.3:c.829C>T, NM_001258392.2:c.829C>T, NM_001258392.1:c.829C>T, NM_001258393.3:c.742C>T, NM_001258393.2:c.742C>T, NM_001258393.1:c.742C>T, XM_011545289.3:c.919C>T, XM_011545289.2:c.919C>T, XM_011545289.1:c.919C>T, XM_005274320.2:c.832C>T, XM_005274320.1:c.832C>T, XM_047427656.1:c.406C>T, XM_047427655.1:c.694C>T, NP_110440.1:p.Arg307Ter, NP_001245323.1:p.Arg262Ter, NP_001245321.1:p.Arg277Ter, NP_001245322.1:p.Arg248Ter, XP_011543591.1:p.Arg307Ter, XP_005274377.1:p.Arg278Ter, XP_047283612.1:p.Arg136Ter, XP_047283611.1:p.Arg232Ter

Select item 14641351196.

rs1464135119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72380282 (GRCh38)
11:72091326 (GRCh37)
Canonical SPDI:: NC_000011.10:72380281:T:C
Gene:: CLPB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.72380282T>C, NC_000011.9:g.72091326T>C, NG_042130.2:g.59403A>G, NM_030813.6:c.645A>G, NM_030813.5:c.645A>G, NM_030813.4:c.645A>G, NM_001258394.3:c.510A>G, NM_001258394.2:c.510A>G, NM_001258394.1:c.510A>G, NM_001258392.3:c.645A>G, NM_001258392.2:c.645A>G, NM_001258392.1:c.645A>G, NM_001258393.3:c.558A>G, NM_001258393.2:c.558A>G, NM_001258393.1:c.558A>G, XM_011545289.3:c.645A>G, XM_011545289.2:c.645A>G, XM_011545289.1:c.645A>G, XM_005274320.2:c.558A>G, XM_005274320.1:c.558A>G, XM_047427656.1:c.132A>G, XM_047427655.1:c.510A>G

Select item 14604488997.

rs1460448899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72430339 (GRCh38)
11:72141383 (GRCh37)
Canonical SPDI:: NC_000011.10:72430338:C:T
Gene:: CLPB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000011.10:g.72430339C>T, NC_000011.9:g.72141383C>T, NG_042130.2:g.9346G>A, NM_030813.6:c.428G>A, NM_030813.5:c.428G>A, NM_030813.4:c.428G>A, NM_001258394.3:c.186G>A, NM_001258394.2:c.186G>A, NM_001258394.1:c.186G>A, NM_001258392.3:c.428G>A, NM_001258392.2:c.428G>A, NM_001258392.1:c.428G>A, NM_001258393.3:c.428G>A, NM_001258393.2:c.428G>A, NM_001258393.1:c.428G>A, XM_011545289.3:c.428G>A, XM_011545289.2:c.428G>A, XM_011545289.1:c.428G>A, XM_005274320.2:c.428G>A, XM_005274320.1:c.428G>A, XM_047427656.1:c.-295G>A, XM_047427655.1:c.186G>A, NP_110440.1:p.Arg143His, NP_001245321.1:p.Arg143His, NP_001245322.1:p.Arg143His, XP_011543591.1:p.Arg143His, XP_005274377.1:p.Arg143His

Select item 14579615648.

rs1457961564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:72434241 (GRCh38)
11:72145285 (GRCh37)
Canonical SPDI:: NC_000011.10:72434240:G:T
Gene:: CLPB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_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.72434241G>T, NC_000011.9:g.72145285G>T, NG_042130.2:g.5444C>A, NM_030813.6:c.234C>A, NM_030813.5:c.234C>A, NM_030813.4:c.234C>A, NM_001258394.3:c.-9C>A, NM_001258394.2:c.-9C>A, NM_001258394.1:c.-9C>A, NM_001258392.3:c.234C>A, NM_001258392.2:c.234C>A, NM_001258392.1:c.234C>A, NM_001258393.3:c.234C>A, NM_001258393.2:c.234C>A, NM_001258393.1:c.234C>A, XM_011545289.3:c.234C>A, XM_011545289.2:c.234C>A, XM_011545289.1:c.234C>A, XM_005274320.2:c.234C>A, XM_005274320.1:c.234C>A, XM_047427656.1:c.-489C>A, XM_047427655.1:c.-9C>A, NP_110440.1:p.Phe78Leu, NP_001245321.1:p.Phe78Leu, NP_001245322.1:p.Phe78Leu, XP_011543591.1:p.Phe78Leu, XP_005274377.1:p.Phe78Leu

Select item 14552025069.

rs1455202506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72434130 (GRCh38)
11:72145174 (GRCh37)
Canonical SPDI:: NC_000011.10:72434129:C:T
Gene:: CLPB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.72434130C>T, NC_000011.9:g.72145174C>T, NG_042130.2:g.5555G>A, NM_030813.6:c.345G>A, NM_030813.5:c.345G>A, NM_030813.4:c.345G>A, NM_001258394.3:c.103G>A, NM_001258394.2:c.103G>A, NM_001258394.1:c.103G>A, NM_001258392.3:c.345G>A, NM_001258392.2:c.345G>A, NM_001258392.1:c.345G>A, NM_001258393.3:c.345G>A, NM_001258393.2:c.345G>A, NM_001258393.1:c.345G>A, XM_011545289.3:c.345G>A, XM_011545289.2:c.345G>A, XM_011545289.1:c.345G>A, XM_005274320.2:c.345G>A, XM_005274320.1:c.345G>A, XM_047427656.1:c.-378G>A, XM_047427655.1:c.103G>A, NP_110440.1:p.Met115Ile, NP_001245323.1:p.Val35Met, NP_001245321.1:p.Met115Ile, NP_001245322.1:p.Met115Ile, XP_011543591.1:p.Met115Ile, XP_005274377.1:p.Met115Ile, XP_047283611.1:p.Val35Met

Select item 145448033710.

rs1454480337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:72372935 (GRCh38)
11:72083979 (GRCh37)
Canonical SPDI:: NC_000011.10:72372934:G:C
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_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.72372935G>C, NC_000011.9:g.72083979G>C, NG_042130.2:g.66750C>G, NM_030813.6:c.726C>G, NM_030813.5:c.726C>G, NM_030813.4:c.726C>G, NM_001258394.3:c.591C>G, NM_001258394.2:c.591C>G, NM_001258394.1:c.591C>G, XM_011545289.3:c.726C>G, XM_011545289.2:c.726C>G, XM_011545289.1:c.726C>G, XM_005274320.2:c.639C>G, XM_005274320.1:c.639C>G, XM_047427656.1:c.213C>G

Select item 144593885511.

rs1445938855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72317109 (GRCh38)
11:72028153 (GRCh37)
Canonical SPDI:: NC_000011.10:72317108:C:T
Gene:: CLPB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.72317109C>T, NC_000011.9:g.72028153C>T, NG_042130.2:g.122576G>A, NM_030813.6:c.1075G>A, NM_030813.5:c.1075G>A, NM_030813.4:c.1075G>A, NM_001258394.3:c.940G>A, NM_001258394.2:c.940G>A, NM_001258394.1:c.940G>A, NM_001258392.3:c.985G>A, NM_001258392.2:c.985G>A, NM_001258392.1:c.985G>A, NM_001258393.3:c.898G>A, NM_001258393.2:c.898G>A, NM_001258393.1:c.898G>A, XM_011545289.3:c.1075G>A, XM_011545289.2:c.1075G>A, XM_011545289.1:c.1075G>A, XM_005274320.2:c.988G>A, XM_005274320.1:c.988G>A, XM_047427656.1:c.562G>A, XM_047427655.1:c.850G>A, NP_110440.1:p.Ala359Thr, NP_001245323.1:p.Ala314Thr, NP_001245321.1:p.Ala329Thr, NP_001245322.1:p.Ala300Thr, XP_011543591.1:p.Ala359Thr, XP_005274377.1:p.Ala330Thr, XP_047283612.1:p.Ala188Thr, XP_047283611.1:p.Ala284Thr

Select item 144514126112.

rs1445141261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72329765 (GRCh38)
11:72040809 (GRCh37)
Canonical SPDI:: NC_000011.10:72329764:G:A
Gene:: CLPB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72329765G>A, NC_000011.9:g.72040809G>A, NG_042130.2:g.109920C>T, NM_030813.6:c.905C>T, NM_030813.5:c.905C>T, NM_030813.4:c.905C>T, NM_001258394.3:c.770C>T, NM_001258394.2:c.770C>T, NM_001258394.1:c.770C>T, NM_001258392.3:c.815C>T, NM_001258392.2:c.815C>T, NM_001258392.1:c.815C>T, NM_001258393.3:c.728C>T, NM_001258393.2:c.728C>T, NM_001258393.1:c.728C>T, XM_011545289.3:c.905C>T, XM_011545289.2:c.905C>T, XM_011545289.1:c.905C>T, XM_005274320.2:c.818C>T, XM_005274320.1:c.818C>T, XM_047427656.1:c.392C>T, XM_047427655.1:c.680C>T, NP_110440.1:p.Pro302Leu, NP_001245323.1:p.Pro257Leu, NP_001245321.1:p.Pro272Leu, NP_001245322.1:p.Pro243Leu, XP_011543591.1:p.Pro302Leu, XP_005274377.1:p.Pro273Leu, XP_047283612.1:p.Pro131Leu, XP_047283611.1:p.Pro227Leu

Select item 144512534113.

rs1445125341 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72434185 (GRCh38)
11:72145229 (GRCh37)
Canonical SPDI:: NC_000011.10:72434184:G:A
Gene:: CLPB (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.72434185G>A, NC_000011.9:g.72145229G>A, NG_042130.2:g.5500C>T, NM_030813.6:c.290C>T, NM_030813.5:c.290C>T, NM_030813.4:c.290C>T, NM_001258394.3:c.48C>T, NM_001258394.2:c.48C>T, NM_001258394.1:c.48C>T, NM_001258392.3:c.290C>T, NM_001258392.2:c.290C>T, NM_001258392.1:c.290C>T, NM_001258393.3:c.290C>T, NM_001258393.2:c.290C>T, NM_001258393.1:c.290C>T, XM_011545289.3:c.290C>T, XM_011545289.2:c.290C>T, XM_011545289.1:c.290C>T, XM_005274320.2:c.290C>T, XM_005274320.1:c.290C>T, XM_047427656.1:c.-433C>T, XM_047427655.1:c.48C>T, NP_110440.1:p.Thr97Ile, NP_001245321.1:p.Thr97Ile, NP_001245322.1:p.Thr97Ile, XP_011543591.1:p.Thr97Ile, XP_005274377.1:p.Thr97Ile

Select item 144370670914.

rs1443706709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72434371 (GRCh38)
11:72145415 (GRCh37)
Canonical SPDI:: NC_000011.10:72434370:C:T
Gene:: CLPB (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72434371C>T, NC_000011.9:g.72145415C>T, NG_042130.2:g.5314G>A, NM_030813.6:c.104G>A, NM_030813.5:c.104G>A, NM_030813.4:c.104G>A, NM_001258394.3:c.-139G>A, NM_001258394.2:c.-139G>A, NM_001258394.1:c.-139G>A, NM_001258392.3:c.104G>A, NM_001258392.2:c.104G>A, NM_001258392.1:c.104G>A, NM_001258393.3:c.104G>A, NM_001258393.2:c.104G>A, NM_001258393.1:c.104G>A, XM_011545289.3:c.104G>A, XM_011545289.2:c.104G>A, XM_011545289.1:c.104G>A, XM_005274320.2:c.104G>A, XM_005274320.1:c.104G>A, XM_047427656.1:c.-619G>A, XM_047427655.1:c.-139G>A, NP_110440.1:p.Arg35Gln, NP_001245321.1:p.Arg35Gln, NP_001245322.1:p.Arg35Gln, XP_011543591.1:p.Arg35Gln, XP_005274377.1:p.Arg35Gln

Select item 144156178315.

rs1441561783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:72329716 (GRCh38)
11:72040760 (GRCh37)
Canonical SPDI:: NC_000011.10:72329715:A:G
Gene:: CLPB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72329716A>G, NC_000011.9:g.72040760A>G, NG_042130.2:g.109969T>C, NM_030813.6:c.954T>C, NM_030813.5:c.954T>C, NM_030813.4:c.954T>C, NM_001258394.3:c.819T>C, NM_001258394.2:c.819T>C, NM_001258394.1:c.819T>C, NM_001258392.3:c.864T>C, NM_001258392.2:c.864T>C, NM_001258392.1:c.864T>C, NM_001258393.3:c.777T>C, NM_001258393.2:c.777T>C, NM_001258393.1:c.777T>C, XM_011545289.3:c.954T>C, XM_011545289.2:c.954T>C, XM_011545289.1:c.954T>C, XM_005274320.2:c.867T>C, XM_005274320.1:c.867T>C, XM_047427656.1:c.441T>C, XM_047427655.1:c.729T>C

Select item 144047721616.

rs1440477216 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:72380349 (GRCh38)
11:72091393 (GRCh37)
Canonical SPDI:: NC_000011.10:72380348:GG:G
Gene:: CLPB (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72380350del, NC_000011.9:g.72091394del, NG_042130.2:g.59336del, NM_030813.6:c.578del, NM_030813.5:c.578del, NM_030813.4:c.578del, NM_001258394.3:c.443del, NM_001258394.2:c.443del, NM_001258394.1:c.443del, NM_001258392.3:c.578del, NM_001258392.2:c.578del, NM_001258392.1:c.578del, NM_001258393.3:c.491del, NM_001258393.2:c.491del, NM_001258393.1:c.491del, XM_011545289.3:c.578del, XM_011545289.2:c.578del, XM_011545289.1:c.578del, XM_005274320.2:c.491del, XM_005274320.1:c.491del, XM_047427656.1:c.65del, XM_047427655.1:c.443del, NP_110440.1:p.Pro193fs, NP_001245323.1:p.Pro148fs, NP_001245321.1:p.Pro193fs, NP_001245322.1:p.Pro164fs, XP_011543591.1:p.Pro193fs, XP_005274377.1:p.Pro164fs, XP_047283612.1:p.Pro22fs, XP_047283611.1:p.Pro148fs

Select item 143906791417.

rs1439067914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:72358892 (GRCh38)
11:72069936 (GRCh37)
Canonical SPDI:: NC_000011.10:72358891:G:T
Gene:: CLPB (Varview), LOC112268077 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000033/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72358892G>T, NC_000011.9:g.72069936G>T, NG_042130.2:g.80793C>A, NM_030813.6:c.853C>A, NM_030813.5:c.853C>A, NM_030813.4:c.853C>A, NM_001258394.3:c.718C>A, NM_001258394.2:c.718C>A, NM_001258394.1:c.718C>A, NM_001258392.3:c.763C>A, NM_001258392.2:c.763C>A, NM_001258392.1:c.763C>A, NM_001258393.3:c.676C>A, NM_001258393.2:c.676C>A, NM_001258393.1:c.676C>A, XM_011545289.3:c.853C>A, XM_011545289.2:c.853C>A, XM_011545289.1:c.853C>A, XM_005274320.2:c.766C>A, XM_005274320.1:c.766C>A, XM_047427656.1:c.340C>A, XM_047427655.1:c.628C>A, NP_110440.1:p.Leu285Met, NP_001245323.1:p.Leu240Met, NP_001245321.1:p.Leu255Met, NP_001245322.1:p.Leu226Met, XP_011543591.1:p.Leu285Met, XP_005274377.1:p.Leu256Met, XP_047283612.1:p.Leu114Met, XP_047283611.1:p.Leu210Met

Select item 143471760718.

rs1434717607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:72380335 (GRCh38)
11:72091379 (GRCh37)
Canonical SPDI:: NC_000011.10:72380334:C:A
Gene:: CLPB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72380335C>A, NC_000011.9:g.72091379C>A, NG_042130.2:g.59350G>T, NM_030813.6:c.592G>T, NM_030813.5:c.592G>T, NM_030813.4:c.592G>T, NM_001258394.3:c.457G>T, NM_001258394.2:c.457G>T, NM_001258394.1:c.457G>T, NM_001258392.3:c.592G>T, NM_001258392.2:c.592G>T, NM_001258392.1:c.592G>T, NM_001258393.3:c.505G>T, NM_001258393.2:c.505G>T, NM_001258393.1:c.505G>T, XM_011545289.3:c.592G>T, XM_011545289.2:c.592G>T, XM_011545289.1:c.592G>T, XM_005274320.2:c.505G>T, XM_005274320.1:c.505G>T, XM_047427656.1:c.79G>T, XM_047427655.1:c.457G>T, NP_110440.1:p.Asp198Tyr, NP_001245323.1:p.Asp153Tyr, NP_001245321.1:p.Asp198Tyr, NP_001245322.1:p.Asp169Tyr, XP_011543591.1:p.Asp198Tyr, XP_005274377.1:p.Asp169Tyr, XP_047283612.1:p.Asp27Tyr, XP_047283611.1:p.Asp153Tyr

Select item 143449015219.

rs1434490152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:72434093 (GRCh38)
11:72145137 (GRCh37)
Canonical SPDI:: NC_000011.10:72434092:T:G
Gene:: CLPB (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72434093T>G, NC_000011.9:g.72145137T>G, NG_042130.2:g.5592A>C, NM_030813.6:c.382A>C, NM_030813.5:c.382A>C, NM_030813.4:c.382A>C, NM_001258394.3:c.140A>C, NM_001258394.2:c.140A>C, NM_001258394.1:c.140A>C, NM_001258392.3:c.382A>C, NM_001258392.2:c.382A>C, NM_001258392.1:c.382A>C, NM_001258393.3:c.382A>C, NM_001258393.2:c.382A>C, NM_001258393.1:c.382A>C, XM_011545289.3:c.382A>C, XM_011545289.2:c.382A>C, XM_011545289.1:c.382A>C, XM_005274320.2:c.382A>C, XM_005274320.1:c.382A>C, XM_047427656.1:c.-341A>C, XM_047427655.1:c.140A>C, NP_110440.1:p.Ser128Arg, NP_001245323.1:p.Gln47Pro, NP_001245321.1:p.Ser128Arg, NP_001245322.1:p.Ser128Arg, XP_011543591.1:p.Ser128Arg, XP_005274377.1:p.Ser128Arg, XP_047283611.1:p.Gln47Pro

Select item 143447764420.

rs1434477644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72358969 (GRCh38)
11:72070013 (GRCh37)
Canonical SPDI:: NC_000011.10:72358968:T:C
Gene:: CLPB (Varview), LOC112268077 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.72358969T>C, NC_000011.9:g.72070013T>C, NG_042130.2:g.80716A>G, NM_030813.6:c.776A>G, NM_030813.5:c.776A>G, NM_030813.4:c.776A>G, NM_001258394.3:c.641A>G, NM_001258394.2:c.641A>G, NM_001258394.1:c.641A>G, NM_001258392.3:c.686A>G, NM_001258392.2:c.686A>G, NM_001258392.1:c.686A>G, NM_001258393.3:c.599A>G, NM_001258393.2:c.599A>G, NM_001258393.1:c.599A>G, XM_011545289.3:c.776A>G, XM_011545289.2:c.776A>G, XM_011545289.1:c.776A>G, XM_005274320.2:c.689A>G, XM_005274320.1:c.689A>G, XM_047427656.1:c.263A>G, XM_047427655.1:c.551A>G, NP_110440.1:p.Asn259Ser, NP_001245323.1:p.Asn214Ser, NP_001245321.1:p.Asn229Ser, NP_001245322.1:p.Asn200Ser, XP_011543591.1:p.Asn259Ser, XP_005274377.1:p.Asn230Ser, XP_047283612.1:p.Asn88Ser, XP_047283611.1:p.Asn184Ser

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