SNP Links for Protein (Select 768033141) - SNP

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Links from Protein

Items: 1 to 20 of 129

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Select item 14879917121.

rs1487991712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:37572847 (GRCh38)
X:37432100 (GRCh37)
Canonical SPDI:: NC_000023.11:37572846:C:G
Gene:: LANCL3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.37572847C>G, NC_000023.10:g.37432100C>G, NG_016368.1:g.6279C>G, NW_003871099.1:g.284653C>G, XM_011543904.3:c.7C>G, XM_011543904.2:c.7C>G, XM_011543904.1:c.7C>G, XP_011542206.1:p.Leu3Val

Select item 14667254822.

rs1466725482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:37655781 (GRCh38)
X:37515034 (GRCh37)
Canonical SPDI:: NC_000023.11:37655780:A:T
Gene:: LANCL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.37655781A>T, NC_000023.10:g.37515034A>T, NG_016368.1:g.89213A>T, NM_198511.2:c.667A>T, NM_198511.3:c.667A>T, NM_001170331.1:c.667A>T, NM_001170331.2:c.667A>T, NW_003871099.1:g.367587A>T, XM_011543904.3:c.121A>T, XM_011543904.2:c.121A>T, XM_011543904.1:c.121A>T, NP_940913.1:p.Met223Leu, NP_001163802.1:p.Met223Leu, XP_011542206.1:p.Met41Leu

Select item 14599246313.

rs1459924631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:37655713 (GRCh38)
X:37514966 (GRCh37)
Canonical SPDI:: NC_000023.11:37655712:C:T
Gene:: LANCL3 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.37655713C>T, NC_000023.10:g.37514966C>T, NG_016368.1:g.89145C>T, NM_198511.2:c.599C>T, NM_198511.3:c.599C>T, NM_001170331.1:c.599C>T, NM_001170331.2:c.599C>T, NW_003871099.1:g.367519C>T, XM_011543904.3:c.53C>T, XM_011543904.2:c.53C>T, XM_011543904.1:c.53C>T, NP_940913.1:p.Ser200Leu, NP_001163802.1:p.Ser200Leu, XP_011542206.1:p.Ser18Leu

Select item 14565186684.

rs1456518668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:37659578 (GRCh38)
X:37518831 (GRCh37)
Canonical SPDI:: NC_000023.11:37659577:C:G
Gene:: LANCL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.37659578C>G, NC_000023.10:g.37518831C>G, NG_016368.1:g.93010C>G, NM_198511.2:c.814C>G, NM_198511.3:c.814C>G, NM_001170331.1:c.814C>G, NM_001170331.2:c.814C>G, NW_003871099.1:g.371384C>G, XM_011543904.3:c.268C>G, XM_011543904.2:c.268C>G, XM_011543904.1:c.268C>G, NP_940913.1:p.Gln272Glu, NP_001163802.1:p.Gln272Glu, XP_011542206.1:p.Gln90Glu

Select item 14497933235.

rs1449793323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:37659552 (GRCh38)
X:37518805 (GRCh37)
Canonical SPDI:: NC_000023.11:37659551:G:A
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.37659552G>A, NC_000023.10:g.37518805G>A, NG_016368.1:g.92984G>A, NM_198511.2:c.788G>A, NM_198511.3:c.788G>A, NM_001170331.1:c.788G>A, NM_001170331.2:c.788G>A, NW_003871099.1:g.371358G>A, XM_011543904.3:c.242G>A, XM_011543904.2:c.242G>A, XM_011543904.1:c.242G>A, NP_940913.1:p.Ser263Asn, NP_001163802.1:p.Ser263Asn, XP_011542206.1:p.Ser81Asn

Select item 14491954896.

rs1449195489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37667330 (GRCh38)
X:37526583 (GRCh37)
Canonical SPDI:: NC_000023.11:37667329:A:G
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.37667330A>G, NC_000023.10:g.37526583A>G, NG_016368.1:g.100762A>G, NM_198511.2:c.944A>G, NM_198511.3:c.944A>G, NM_001170331.1:c.944A>G, NM_001170331.2:c.944A>G, NW_003871099.1:g.379136A>G, XM_011543904.3:c.398A>G, XM_011543904.2:c.398A>G, XM_011543904.1:c.398A>G, NP_940913.1:p.Gln315Arg, NP_001163802.1:p.Gln315Arg, XP_011542206.1:p.Gln133Arg

Select item 14476713977.

rs1447671397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:37675763 (GRCh38)
X:37535016 (GRCh37)
Canonical SPDI:: NC_000023.11:37675762:C:T
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.37675763C>T, NC_000023.10:g.37535016C>T, NG_016368.1:g.109195C>T, NM_198511.2:c.*129C>T, NM_198511.3:c.*129C>T, NM_001170331.1:c.1213C>T, NM_001170331.2:c.1213C>T, NW_003871099.1:g.387569C>T, XM_011543904.3:c.667C>T, XM_011543904.2:c.667C>T, XM_011543904.1:c.667C>T

Select item 14292490578.

rs1429249057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:37675654 (GRCh38)
X:37534907 (GRCh37)
Canonical SPDI:: NC_000023.11:37675653:G:C,NC_000023.11:37675653:G:T
Gene:: LANCL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.37675654G>C, NC_000023.11:g.37675654G>T, NC_000023.10:g.37534907G>C, NC_000023.10:g.37534907G>T, NG_016368.1:g.109086G>C, NG_016368.1:g.109086G>T, NM_198511.2:c.*20G>C, NM_198511.2:c.*20G>T, NM_198511.3:c.*20G>C, NM_198511.3:c.*20G>T, NM_001170331.1:c.1104G>C, NM_001170331.1:c.1104G>T, NM_001170331.2:c.1104G>C, NM_001170331.2:c.1104G>T, NW_003871099.1:g.387460G>C, NW_003871099.1:g.387460G>T, XM_011543904.3:c.558G>C, XM_011543904.3:c.558G>T, XM_011543904.2:c.558G>C, XM_011543904.2:c.558G>T, XM_011543904.1:c.558G>C, XM_011543904.1:c.558G>T, NP_001163802.1:p.Arg368Ser, NP_001163802.1:p.Arg368Ser, XP_011542206.1:p.Arg186Ser, XP_011542206.1:p.Arg186Ser

Select item 14285921299.

rs1428592129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:37667457 (GRCh38)
X:37526710 (GRCh37)
Canonical SPDI:: NC_000023.11:37667456:G:A
Gene:: LANCL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.37667457G>A, NC_000023.10:g.37526710G>A, NG_016368.1:g.100889G>A, NM_198511.2:c.1071G>A, NM_198511.3:c.1071G>A, NM_001170331.1:c.1071G>A, NM_001170331.2:c.1071G>A, NW_003871099.1:g.379263G>A, XM_011543904.3:c.525G>A, XM_011543904.2:c.525G>A, XM_011543904.1:c.525G>A

Select item 141774441410.

rs1417744414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37655746 (GRCh38)
X:37514999 (GRCh37)
Canonical SPDI:: NC_000023.11:37655745:A:G
Gene:: LANCL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.37655746A>G, NC_000023.10:g.37514999A>G, NG_016368.1:g.89178A>G, NM_198511.2:c.632A>G, NM_198511.3:c.632A>G, NM_001170331.1:c.632A>G, NM_001170331.2:c.632A>G, NW_003871099.1:g.367552A>G, XM_011543904.3:c.86A>G, XM_011543904.2:c.86A>G, XM_011543904.1:c.86A>G, NP_940913.1:p.Gln211Arg, NP_001163802.1:p.Gln211Arg, XP_011542206.1:p.Gln29Arg

Select item 139201558411.

rs1392015584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:37667479 (GRCh38)
X:37526732 (GRCh37)
Canonical SPDI:: NC_000023.11:37667478:C:A,NC_000023.11:37667478:C:T
Gene:: LANCL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.37667479C>A, NC_000023.11:g.37667479C>T, NC_000023.10:g.37526732C>A, NC_000023.10:g.37526732C>T, NG_016368.1:g.100911C>A, NG_016368.1:g.100911C>T, NM_198511.2:c.1093C>A, NM_198511.2:c.1093C>T, NM_198511.3:c.1093C>A, NM_198511.3:c.1093C>T, NM_001170331.1:c.1093C>A, NM_001170331.1:c.1093C>T, NM_001170331.2:c.1093C>A, NM_001170331.2:c.1093C>T, NW_003871099.1:g.379285C>A, NW_003871099.1:g.379285C>T, XM_011543904.3:c.547C>A, XM_011543904.3:c.547C>T, XM_011543904.2:c.547C>A, XM_011543904.2:c.547C>T, XM_011543904.1:c.547C>A, XM_011543904.1:c.547C>T, NP_940913.1:p.Arg365Ter, NP_001163802.1:p.Arg365Ter, XP_011542206.1:p.Arg183Ter

Select item 139058701812.

rs1390587018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:37675735 (GRCh38)
X:37534988 (GRCh37)
Canonical SPDI:: NC_000023.11:37675734:C:T
Gene:: LANCL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.37675735C>T, NC_000023.10:g.37534988C>T, NG_016368.1:g.109167C>T, NM_198511.2:c.*101C>T, NM_198511.3:c.*101C>T, NM_001170331.1:c.1185C>T, NM_001170331.2:c.1185C>T, NW_003871099.1:g.387541C>T, XM_011543904.3:c.639C>T, XM_011543904.2:c.639C>T, XM_011543904.1:c.639C>T

Select item 138947094913.

rs1389470949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:37655688 (GRCh38)
X:37514941 (GRCh37)
Canonical SPDI:: NC_000023.11:37655687:G:T
Gene:: LANCL3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.37655688G>T, NC_000023.10:g.37514941G>T, NG_016368.1:g.89120G>T, NM_198511.2:c.574G>T, NM_198511.3:c.574G>T, NM_001170331.1:c.574G>T, NM_001170331.2:c.574G>T, NW_003871099.1:g.367494G>T, XM_011543904.3:c.28G>T, XM_011543904.2:c.28G>T, XM_011543904.1:c.28G>T, NP_940913.1:p.Val192Leu, NP_001163802.1:p.Val192Leu, XP_011542206.1:p.Val10Leu

Select item 137358579814.

rs1373585798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:37659505 (GRCh38)
X:37518758 (GRCh37)
Canonical SPDI:: NC_000023.11:37659504:T:C
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.37659505T>C, NC_000023.10:g.37518758T>C, NG_016368.1:g.92937T>C, NM_198511.2:c.741T>C, NM_198511.3:c.741T>C, NM_001170331.1:c.741T>C, NM_001170331.2:c.741T>C, NW_003871099.1:g.371311T>C, XM_011543904.3:c.195T>C, XM_011543904.2:c.195T>C, XM_011543904.1:c.195T>C

Select item 137153003215.

rs1371530032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:37675753 (GRCh38)
X:37535006 (GRCh37)
Canonical SPDI:: NC_000023.11:37675752:T:C
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.37675753T>C, NC_000023.10:g.37535006T>C, NG_016368.1:g.109185T>C, NM_198511.2:c.*119T>C, NM_198511.3:c.*119T>C, NM_001170331.1:c.1203T>C, NM_001170331.2:c.1203T>C, NW_003871099.1:g.387559T>C, XM_011543904.3:c.657T>C, XM_011543904.2:c.657T>C, XM_011543904.1:c.657T>C

Select item 133370987116.

rs1333709871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37667401 (GRCh38)
X:37526654 (GRCh37)
Canonical SPDI:: NC_000023.11:37667400:A:G
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.37667401A>G, NC_000023.10:g.37526654A>G, NG_016368.1:g.100833A>G, NM_198511.2:c.1015A>G, NM_198511.3:c.1015A>G, NM_001170331.1:c.1015A>G, NM_001170331.2:c.1015A>G, NW_003871099.1:g.379207A>G, XM_011543904.3:c.469A>G, XM_011543904.2:c.469A>G, XM_011543904.1:c.469A>G, NP_940913.1:p.Ile339Val, NP_001163802.1:p.Ile339Val, XP_011542206.1:p.Ile157Val

Select item 133357873617.

rs1333578736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:37675757 (GRCh38)
X:37535010 (GRCh37)
Canonical SPDI:: NC_000023.11:37675756:A:G
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.37675757A>G, NC_000023.10:g.37535010A>G, NG_016368.1:g.109189A>G, NM_198511.2:c.*123A>G, NM_198511.3:c.*123A>G, NM_001170331.1:c.1207A>G, NM_001170331.2:c.1207A>G, NW_003871099.1:g.387563A>G, XM_011543904.3:c.661A>G, XM_011543904.2:c.661A>G, XM_011543904.1:c.661A>G, NP_001163802.1:p.Ile403Val, XP_011542206.1:p.Ile221Val

Select item 132633201218.

rs1326332012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:37659462 (GRCh38)
X:37518715 (GRCh37)
Canonical SPDI:: NC_000023.11:37659461:G:A
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.37659462G>A, NC_000023.10:g.37518715G>A, NG_016368.1:g.92894G>A, NM_198511.2:c.698G>A, NM_198511.3:c.698G>A, NM_001170331.1:c.698G>A, NM_001170331.2:c.698G>A, NW_003871099.1:g.371268G>A, XM_011543904.3:c.152G>A, XM_011543904.2:c.152G>A, XM_011543904.1:c.152G>A, NP_940913.1:p.Gly233Glu, NP_001163802.1:p.Gly233Glu, XP_011542206.1:p.Gly51Glu

Select item 132538037819.

rs1325380378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:37655703 (GRCh38)
X:37514956 (GRCh37)
Canonical SPDI:: NC_000023.11:37655702:C:G
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.37655703C>G, NC_000023.10:g.37514956C>G, NG_016368.1:g.89135C>G, NM_198511.2:c.589C>G, NM_198511.3:c.589C>G, NM_001170331.1:c.589C>G, NM_001170331.2:c.589C>G, NW_003871099.1:g.367509C>G, XM_011543904.3:c.43C>G, XM_011543904.2:c.43C>G, XM_011543904.1:c.43C>G, NP_940913.1:p.Gln197Glu, NP_001163802.1:p.Gln197Glu, XP_011542206.1:p.Gln15Glu

Select item 132099556720.

rs1320995567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: X:37667462 (GRCh38)
X:37526715 (GRCh37)
Canonical SPDI:: NC_000023.11:37667461:A:C,NC_000023.11:37667461:A:T
Gene:: LANCL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/3 (GnomAD)
HGVS:: NC_000023.11:g.37667462A>C, NC_000023.11:g.37667462A>T, NC_000023.10:g.37526715A>C, NC_000023.10:g.37526715A>T, NG_016368.1:g.100894A>C, NG_016368.1:g.100894A>T, NM_198511.2:c.1076A>C, NM_198511.2:c.1076A>T, NM_198511.3:c.1076A>C, NM_198511.3:c.1076A>T, NM_001170331.1:c.1076A>C, NM_001170331.1:c.1076A>T, NM_001170331.2:c.1076A>C, NM_001170331.2:c.1076A>T, NW_003871099.1:g.379268A>C, NW_003871099.1:g.379268A>T, XM_011543904.3:c.530A>C, XM_011543904.3:c.530A>T, XM_011543904.2:c.530A>C, XM_011543904.2:c.530A>T, XM_011543904.1:c.530A>C, XM_011543904.1:c.530A>T, NP_940913.1:p.Asn359Thr, NP_940913.1:p.Asn359Ile, NP_001163802.1:p.Asn359Thr, NP_001163802.1:p.Asn359Ile, XP_011542206.1:p.Asn177Thr, XP_011542206.1:p.Asn177Ile

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