SNP Links for Protein (Select 1034663738) - SNP

Links from Protein

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Select item 14906665441.

rs1490666544 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:36199014 (GRCh38)
9:36199011 (GRCh37)
Canonical SPDI:: NC_000009.12:36199013:T:C
Gene:: CLTA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.36199014T>C, NC_000009.11:g.36199011T>C, NM_007096.4:c.291T>C, NM_007096.3:c.291T>C, NM_001833.4:c.291T>C, NM_001833.3:c.291T>C, NM_001076677.3:c.291T>C, NM_001076677.2:c.291T>C, NM_001184760.2:c.291T>C, NM_001184760.1:c.291T>C, NM_001184761.2:c.291T>C, NM_001184761.1:c.291T>C, NM_001311206.2:c.-61T>C, NM_001311206.1:c.-61T>C, XM_017014257.2:c.57T>C, XM_017014257.1:c.57T>C, NM_001311203.2:c.57T>C, NM_001311203.1:c.57T>C, XM_017014258.2:c.57T>C, XM_017014258.1:c.57T>C

Select item 14841005722.

rs1484100572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:36204174 (GRCh38)
9:36204171 (GRCh37)
Canonical SPDI:: NC_000009.12:36204173:C:T
Gene:: CLTA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.36204174C>T, NC_000009.11:g.36204171C>T, NM_007096.4:c.480C>T, NM_007096.3:c.480C>T, NM_001833.4:c.480C>T, NM_001833.3:c.480C>T, NM_001076677.3:c.480C>T, NM_001076677.2:c.480C>T, NM_001184760.2:c.480C>T, NM_001184760.1:c.480C>T, NM_001184761.2:c.480C>T, NM_001184761.1:c.480C>T, NM_001311206.2:c.129C>T, NM_001311206.1:c.129C>T, NM_001311204.2:c.324C>T, NM_001311204.1:c.324C>T, NR_132349.2:n.498C>T, NR_132349.1:n.563C>T, NM_001311205.2:c.324C>T, NM_001311205.1:c.324C>T, NM_001184762.2:c.324C>T, NM_001184762.1:c.324C>T, XM_017014257.2:c.246C>T, XM_017014257.1:c.246C>T, NM_001311203.2:c.246C>T, NM_001311203.1:c.246C>T, XM_017014258.2:c.246C>T, XM_017014258.1:c.246C>T

Select item 14792786803.

rs1479278680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:36211628 (GRCh38)
9:36211625 (GRCh37)
Canonical SPDI:: NC_000009.12:36211627:G:A,NC_000009.12:36211627:G:T
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.36211628G>A, NC_000009.12:g.36211628G>T, NC_000009.11:g.36211625G>A, NC_000009.11:g.36211625G>T, NM_007096.4:c.601G>A, NM_007096.4:c.601G>T, NM_007096.3:c.601G>A, NM_007096.3:c.601G>T, NM_001833.4:c.511G>A, NM_001833.4:c.511G>T, NM_001833.3:c.511G>A, NM_001833.3:c.511G>T, NM_001076677.3:c.565G>A, NM_001076677.3:c.565G>T, NM_001076677.2:c.565G>A, NM_001076677.2:c.565G>T, NM_001184760.2:c.547G>A, NM_001184760.2:c.547G>T, NM_001184760.1:c.547G>A, NM_001184760.1:c.547G>T, NM_001184761.2:c.506G>A, NM_001184761.2:c.506G>T, NM_001184761.1:c.506G>A, NM_001184761.1:c.506G>T, NM_001311206.2:c.160G>A, NM_001311206.2:c.160G>T, NM_001311206.1:c.160G>A, NM_001311206.1:c.160G>T, NM_001311204.2:c.445G>A, NM_001311204.2:c.445G>T, NM_001311204.1:c.445G>A, NM_001311204.1:c.445G>T, NR_132349.2:n.529G>A, NR_132349.2:n.529G>T, NR_132349.1:n.594G>A, NR_132349.1:n.594G>T, NM_001311205.2:c.391G>A, NM_001311205.2:c.391G>T, NM_001311205.1:c.391G>A, NM_001311205.1:c.391G>T, NM_001184762.2:c.355G>A, NM_001184762.2:c.355G>T, NM_001184762.1:c.355G>A, NM_001184762.1:c.355G>T, XM_017014257.2:c.367G>A, XM_017014257.2:c.367G>T, XM_017014257.1:c.367G>A, XM_017014257.1:c.367G>T, NM_001311203.2:c.277G>A, NM_001311203.2:c.277G>T, NM_001311203.1:c.277G>A, NM_001311203.1:c.277G>T, XM_017014258.2:c.313G>A, XM_017014258.2:c.313G>T, XM_017014258.1:c.313G>A, XM_017014258.1:c.313G>T, NP_009027.1:p.Asp201Asn, NP_009027.1:p.Asp201Tyr, NP_001824.1:p.Asp171Asn, NP_001824.1:p.Asp171Tyr, NP_001070145.1:p.Asp189Asn, NP_001070145.1:p.Asp189Tyr, NP_001171689.1:p.Asp183Asn, NP_001171689.1:p.Asp183Tyr, NP_001171690.1:p.Ter169Leu, NP_001298135.1:p.Asp54Asn, NP_001298135.1:p.Asp54Tyr, NP_001298133.1:p.Asp149Asn, NP_001298133.1:p.Asp149Tyr, NP_001298134.1:p.Asp131Asn, NP_001298134.1:p.Asp131Tyr, NP_001171691.1:p.Asp119Asn, NP_001171691.1:p.Asp119Tyr, XP_016869746.1:p.Asp123Asn, XP_016869746.1:p.Asp123Tyr, NP_001298132.1:p.Asp93Asn, NP_001298132.1:p.Asp93Tyr, XP_016869747.1:p.Asp105Asn, XP_016869747.1:p.Asp105Tyr

Select item 14540745294.

rs1454074529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:36204138 (GRCh38)
9:36204135 (GRCh37)
Canonical SPDI:: NC_000009.12:36204137:A:C,NC_000009.12:36204137:A:G
Gene:: CLTA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.36204138A>C, NC_000009.12:g.36204138A>G, NC_000009.11:g.36204135A>C, NC_000009.11:g.36204135A>G, NM_007096.4:c.444A>C, NM_007096.4:c.444A>G, NM_007096.3:c.444A>C, NM_007096.3:c.444A>G, NM_001833.4:c.444A>C, NM_001833.4:c.444A>G, NM_001833.3:c.444A>C, NM_001833.3:c.444A>G, NM_001076677.3:c.444A>C, NM_001076677.3:c.444A>G, NM_001076677.2:c.444A>C, NM_001076677.2:c.444A>G, NM_001184760.2:c.444A>C, NM_001184760.2:c.444A>G, NM_001184760.1:c.444A>C, NM_001184760.1:c.444A>G, NM_001184761.2:c.444A>C, NM_001184761.2:c.444A>G, NM_001184761.1:c.444A>C, NM_001184761.1:c.444A>G, NM_001311206.2:c.93A>C, NM_001311206.2:c.93A>G, NM_001311206.1:c.93A>C, NM_001311206.1:c.93A>G, NM_001311204.2:c.288A>C, NM_001311204.2:c.288A>G, NM_001311204.1:c.288A>C, NM_001311204.1:c.288A>G, NR_132349.2:n.462A>C, NR_132349.2:n.462A>G, NR_132349.1:n.527A>C, NR_132349.1:n.527A>G, NM_001311205.2:c.288A>C, NM_001311205.2:c.288A>G, NM_001311205.1:c.288A>C, NM_001311205.1:c.288A>G, NM_001184762.2:c.288A>C, NM_001184762.2:c.288A>G, NM_001184762.1:c.288A>C, NM_001184762.1:c.288A>G, XM_017014257.2:c.210A>C, XM_017014257.2:c.210A>G, XM_017014257.1:c.210A>C, XM_017014257.1:c.210A>G, NM_001311203.2:c.210A>C, NM_001311203.2:c.210A>G, NM_001311203.1:c.210A>C, NM_001311203.1:c.210A>G, XM_017014258.2:c.210A>C, XM_017014258.2:c.210A>G, XM_017014258.1:c.210A>C, XM_017014258.1:c.210A>G

Select item 14503304275.

rs1450330427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:36199040 (GRCh38)
9:36199037 (GRCh37)
Canonical SPDI:: NC_000009.12:36199039:A:G
Gene:: CLTA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.36199040A>G, NC_000009.11:g.36199037A>G, NM_007096.4:c.317A>G, NM_007096.3:c.317A>G, NM_001833.4:c.317A>G, NM_001833.3:c.317A>G, NM_001076677.3:c.317A>G, NM_001076677.2:c.317A>G, NM_001184760.2:c.317A>G, NM_001184760.1:c.317A>G, NM_001184761.2:c.317A>G, NM_001184761.1:c.317A>G, NM_001311206.2:c.-35A>G, NM_001311206.1:c.-35A>G, XM_017014257.2:c.83A>G, XM_017014257.1:c.83A>G, NM_001311203.2:c.83A>G, NM_001311203.1:c.83A>G, XM_017014258.2:c.83A>G, XM_017014258.1:c.83A>G, NP_009027.1:p.Glu106Gly, NP_001824.1:p.Glu106Gly, NP_001070145.1:p.Glu106Gly, NP_001171689.1:p.Glu106Gly, NP_001171690.1:p.Glu106Gly, XP_016869746.1:p.Glu28Gly, NP_001298132.1:p.Glu28Gly, XP_016869747.1:p.Glu28Gly

Select item 14500929376.

rs1450092937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:36211682 (GRCh38)
9:36211679 (GRCh37)
Canonical SPDI:: NC_000009.12:36211681:G:A,NC_000009.12:36211681:G:C
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000009.12:g.36211682G>A, NC_000009.12:g.36211682G>C, NC_000009.11:g.36211679G>A, NC_000009.11:g.36211679G>C, NM_007096.4:c.655G>A, NM_007096.4:c.655G>C, NM_007096.3:c.655G>A, NM_007096.3:c.655G>C, NM_001833.4:c.565G>A, NM_001833.4:c.565G>C, NM_001833.3:c.565G>A, NM_001833.3:c.565G>C, NM_001076677.3:c.619G>A, NM_001076677.3:c.619G>C, NM_001076677.2:c.619G>A, NM_001076677.2:c.619G>C, NM_001184760.2:c.601G>A, NM_001184760.2:c.601G>C, NM_001184760.1:c.601G>A, NM_001184760.1:c.601G>C, NM_001184761.2:c.*53G>A, NM_001184761.2:c.*53G>C, NM_001184761.1:c.*53G>A, NM_001184761.1:c.*53G>C, NM_001311206.2:c.214G>A, NM_001311206.2:c.214G>C, NM_001311206.1:c.214G>A, NM_001311206.1:c.214G>C, NM_001311204.2:c.499G>A, NM_001311204.2:c.499G>C, NM_001311204.1:c.499G>A, NM_001311204.1:c.499G>C, NR_132349.2:n.583G>A, NR_132349.2:n.583G>C, NR_132349.1:n.648G>A, NR_132349.1:n.648G>C, NM_001311205.2:c.445G>A, NM_001311205.2:c.445G>C, NM_001311205.1:c.445G>A, NM_001311205.1:c.445G>C, NM_001184762.2:c.409G>A, NM_001184762.2:c.409G>C, NM_001184762.1:c.409G>A, NM_001184762.1:c.409G>C, XM_017014257.2:c.421G>A, XM_017014257.2:c.421G>C, XM_017014257.1:c.421G>A, XM_017014257.1:c.421G>C, NM_001311203.2:c.331G>A, NM_001311203.2:c.331G>C, NM_001311203.1:c.331G>A, NM_001311203.1:c.331G>C, XM_017014258.2:c.367G>A, XM_017014258.2:c.367G>C, XM_017014258.1:c.367G>A, XM_017014258.1:c.367G>C, NP_009027.1:p.Asp219Asn, NP_009027.1:p.Asp219His, NP_001824.1:p.Asp189Asn, NP_001824.1:p.Asp189His, NP_001070145.1:p.Asp207Asn, NP_001070145.1:p.Asp207His, NP_001171689.1:p.Asp201Asn, NP_001171689.1:p.Asp201His, NP_001298135.1:p.Asp72Asn, NP_001298135.1:p.Asp72His, NP_001298133.1:p.Asp167Asn, NP_001298133.1:p.Asp167His, NP_001298134.1:p.Asp149Asn, NP_001298134.1:p.Asp149His, NP_001171691.1:p.Asp137Asn, NP_001171691.1:p.Asp137His, XP_016869746.1:p.Asp141Asn, XP_016869746.1:p.Asp141His, NP_001298132.1:p.Asp111Asn, NP_001298132.1:p.Asp111His, XP_016869747.1:p.Asp123Asn, XP_016869747.1:p.Asp123His

Select item 14459678017.

rs1445967801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:36211697 (GRCh38)
9:36211694 (GRCh37)
Canonical SPDI:: NC_000009.12:36211696:T:C
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.36211697T>C, NC_000009.11:g.36211694T>C, NM_007096.4:c.670T>C, NM_007096.3:c.670T>C, NM_001833.4:c.580T>C, NM_001833.3:c.580T>C, NM_001076677.3:c.634T>C, NM_001076677.2:c.634T>C, NM_001184760.2:c.616T>C, NM_001184760.1:c.616T>C, NM_001184761.2:c.*68T>C, NM_001184761.1:c.*68T>C, NM_001311206.2:c.229T>C, NM_001311206.1:c.229T>C, NM_001311204.2:c.514T>C, NM_001311204.1:c.514T>C, NR_132349.2:n.598T>C, NR_132349.1:n.663T>C, NM_001311205.2:c.460T>C, NM_001311205.1:c.460T>C, NM_001184762.2:c.424T>C, NM_001184762.1:c.424T>C, XM_017014257.2:c.436T>C, XM_017014257.1:c.436T>C, NM_001311203.2:c.346T>C, NM_001311203.1:c.346T>C, XM_017014258.2:c.382T>C, XM_017014258.1:c.382T>C, NP_009027.1:p.Ser224Pro, NP_001824.1:p.Ser194Pro, NP_001070145.1:p.Ser212Pro, NP_001171689.1:p.Ser206Pro, NP_001298135.1:p.Ser77Pro, NP_001298133.1:p.Ser172Pro, NP_001298134.1:p.Ser154Pro, NP_001171691.1:p.Ser142Pro, XP_016869746.1:p.Ser146Pro, NP_001298132.1:p.Ser116Pro, XP_016869747.1:p.Ser128Pro

Select item 14331703278.

rs1433170327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:36210643 (GRCh38)
9:36210640 (GRCh37)
Canonical SPDI:: NC_000009.12:36210642:T:C
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.36210643T>C, NC_000009.11:g.36210640T>C, NM_007096.4:c.558T>C, NM_007096.3:c.558T>C, NM_001184760.2:c.504T>C, NM_001184760.1:c.504T>C, NM_001311204.2:c.402T>C, NM_001311204.1:c.402T>C, NM_001311205.2:c.348T>C, NM_001311205.1:c.348T>C, XM_017014257.2:c.324T>C, XM_017014257.1:c.324T>C, XM_017014258.2:c.270T>C, XM_017014258.1:c.270T>C

Select item 14212761079.

rs1421276107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:36204177 (GRCh38)
9:36204174 (GRCh37)
Canonical SPDI:: NC_000009.12:36204176:C:T
Gene:: CLTA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.36204177C>T, NC_000009.11:g.36204174C>T, NM_007096.4:c.483C>T, NM_007096.3:c.483C>T, NM_001833.4:c.483C>T, NM_001833.3:c.483C>T, NM_001076677.3:c.483C>T, NM_001076677.2:c.483C>T, NM_001184760.2:c.483C>T, NM_001184760.1:c.483C>T, NM_001184761.2:c.483C>T, NM_001184761.1:c.483C>T, NM_001311206.2:c.132C>T, NM_001311206.1:c.132C>T, NM_001311204.2:c.327C>T, NM_001311204.1:c.327C>T, NR_132349.2:n.501C>T, NR_132349.1:n.566C>T, NM_001311205.2:c.327C>T, NM_001311205.1:c.327C>T, NM_001184762.2:c.327C>T, NM_001184762.1:c.327C>T, XM_017014257.2:c.249C>T, XM_017014257.1:c.249C>T, NM_001311203.2:c.249C>T, NM_001311203.1:c.249C>T, XM_017014258.2:c.249C>T, XM_017014258.1:c.249C>T

Select item 140986082010.

rs1409860820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:36211622 (GRCh38)
9:36211619 (GRCh37)
Canonical SPDI:: NC_000009.12:36211621:G:A
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.36211622G>A, NC_000009.11:g.36211619G>A, NM_007096.4:c.595G>A, NM_007096.3:c.595G>A, NM_001833.4:c.505G>A, NM_001833.3:c.505G>A, NM_001076677.3:c.559G>A, NM_001076677.2:c.559G>A, NM_001184760.2:c.541G>A, NM_001184760.1:c.541G>A, NM_001184761.2:c.500G>A, NM_001184761.1:c.500G>A, NM_001311206.2:c.154G>A, NM_001311206.1:c.154G>A, NM_001311204.2:c.439G>A, NM_001311204.1:c.439G>A, NR_132349.2:n.523G>A, NR_132349.1:n.588G>A, NM_001311205.2:c.385G>A, NM_001311205.1:c.385G>A, NM_001184762.2:c.349G>A, NM_001184762.1:c.349G>A, XM_017014257.2:c.361G>A, XM_017014257.1:c.361G>A, NM_001311203.2:c.271G>A, NM_001311203.1:c.271G>A, XM_017014258.2:c.307G>A, XM_017014258.1:c.307G>A, NP_009027.1:p.Val199Ile, NP_001824.1:p.Val169Ile, NP_001070145.1:p.Val187Ile, NP_001171689.1:p.Val181Ile, NP_001171690.1:p.Cys167Tyr, NP_001298135.1:p.Val52Ile, NP_001298133.1:p.Val147Ile, NP_001298134.1:p.Val129Ile, NP_001171691.1:p.Val117Ile, XP_016869746.1:p.Val121Ile, NP_001298132.1:p.Val91Ile, XP_016869747.1:p.Val103Ile

Select item 140693263711.

rs1406932637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:36211720 (GRCh38)
9:36211717 (GRCh37)
Canonical SPDI:: NC_000009.12:36211719:C:T
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.36211720C>T, NC_000009.11:g.36211717C>T, NM_007096.4:c.693C>T, NM_007096.3:c.693C>T, NM_001833.4:c.603C>T, NM_001833.3:c.603C>T, NM_001076677.3:c.657C>T, NM_001076677.2:c.657C>T, NM_001184760.2:c.639C>T, NM_001184760.1:c.639C>T, NM_001184761.2:c.*91C>T, NM_001184761.1:c.*91C>T, NM_001311206.2:c.252C>T, NM_001311206.1:c.252C>T, NM_001311204.2:c.537C>T, NM_001311204.1:c.537C>T, NR_132349.2:n.621C>T, NR_132349.1:n.686C>T, NM_001311205.2:c.483C>T, NM_001311205.1:c.483C>T, NM_001184762.2:c.447C>T, NM_001184762.1:c.447C>T, XM_017014257.2:c.459C>T, XM_017014257.1:c.459C>T, NM_001311203.2:c.369C>T, NM_001311203.1:c.369C>T, XM_017014258.2:c.405C>T, XM_017014258.1:c.405C>T

Select item 140655444312.

rs1406554443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:36211717 (GRCh38)
9:36211714 (GRCh37)
Canonical SPDI:: NC_000009.12:36211716:T:C
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.36211717T>C, NC_000009.11:g.36211714T>C, NM_007096.4:c.690T>C, NM_007096.3:c.690T>C, NM_001833.4:c.600T>C, NM_001833.3:c.600T>C, NM_001076677.3:c.654T>C, NM_001076677.2:c.654T>C, NM_001184760.2:c.636T>C, NM_001184760.1:c.636T>C, NM_001184761.2:c.*88T>C, NM_001184761.1:c.*88T>C, NM_001311206.2:c.249T>C, NM_001311206.1:c.249T>C, NM_001311204.2:c.534T>C, NM_001311204.1:c.534T>C, NR_132349.2:n.618T>C, NR_132349.1:n.683T>C, NM_001311205.2:c.480T>C, NM_001311205.1:c.480T>C, NM_001184762.2:c.444T>C, NM_001184762.1:c.444T>C, XM_017014257.2:c.456T>C, XM_017014257.1:c.456T>C, NM_001311203.2:c.366T>C, NM_001311203.1:c.366T>C, XM_017014258.2:c.402T>C, XM_017014258.1:c.402T>C

Select item 138261744713.

rs1382617447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:36199036 (GRCh38)
9:36199033 (GRCh37)
Canonical SPDI:: NC_000009.12:36199035:T:A
Gene:: CLTA (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.36199036T>A, NC_000009.11:g.36199033T>A, NM_007096.4:c.313T>A, NM_007096.3:c.313T>A, NM_001833.4:c.313T>A, NM_001833.3:c.313T>A, NM_001076677.3:c.313T>A, NM_001076677.2:c.313T>A, NM_001184760.2:c.313T>A, NM_001184760.1:c.313T>A, NM_001184761.2:c.313T>A, NM_001184761.1:c.313T>A, NM_001311206.2:c.-39T>A, NM_001311206.1:c.-39T>A, XM_017014257.2:c.79T>A, XM_017014257.1:c.79T>A, NM_001311203.2:c.79T>A, NM_001311203.1:c.79T>A, XM_017014258.2:c.79T>A, XM_017014258.1:c.79T>A, NP_009027.1:p.Ser105Thr, NP_001824.1:p.Ser105Thr, NP_001070145.1:p.Ser105Thr, NP_001171689.1:p.Ser105Thr, NP_001171690.1:p.Ser105Thr, XP_016869746.1:p.Ser27Thr, NP_001298132.1:p.Ser27Thr, XP_016869747.1:p.Ser27Thr

Select item 138260614614.

rs1382606146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:36204112 (GRCh38)
9:36204109 (GRCh37)
Canonical SPDI:: NC_000009.12:36204111:A:G
Gene:: CLTA (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.36204112A>G, NC_000009.11:g.36204109A>G, NM_007096.4:c.418A>G, NM_007096.3:c.418A>G, NM_001833.4:c.418A>G, NM_001833.3:c.418A>G, NM_001076677.3:c.418A>G, NM_001076677.2:c.418A>G, NM_001184760.2:c.418A>G, NM_001184760.1:c.418A>G, NM_001184761.2:c.418A>G, NM_001184761.1:c.418A>G, NM_001311206.2:c.67A>G, NM_001311206.1:c.67A>G, NM_001311204.2:c.262A>G, NM_001311204.1:c.262A>G, NR_132349.2:n.436A>G, NR_132349.1:n.501A>G, NM_001311205.2:c.262A>G, NM_001311205.1:c.262A>G, NM_001184762.2:c.262A>G, NM_001184762.1:c.262A>G, XM_017014257.2:c.184A>G, XM_017014257.1:c.184A>G, NM_001311203.2:c.184A>G, NM_001311203.1:c.184A>G, XM_017014258.2:c.184A>G, XM_017014258.1:c.184A>G, NP_009027.1:p.Ile140Val, NP_001824.1:p.Ile140Val, NP_001070145.1:p.Ile140Val, NP_001171689.1:p.Ile140Val, NP_001171690.1:p.Ile140Val, NP_001298135.1:p.Ile23Val, NP_001298133.1:p.Ile88Val, NP_001298134.1:p.Ile88Val, NP_001171691.1:p.Ile88Val, XP_016869746.1:p.Ile62Val, NP_001298132.1:p.Ile62Val, XP_016869747.1:p.Ile62Val

Select item 137876429015.

rs1378764290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:36210637 (GRCh38)
9:36210634 (GRCh37)
Canonical SPDI:: NC_000009.12:36210636:C:G
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.36210637C>G, NC_000009.11:g.36210634C>G, NM_007096.4:c.552C>G, NM_007096.3:c.552C>G, NM_001184760.2:c.498C>G, NM_001184760.1:c.498C>G, NM_001311204.2:c.396C>G, NM_001311204.1:c.396C>G, NM_001311205.2:c.342C>G, NM_001311205.1:c.342C>G, XM_017014257.2:c.318C>G, XM_017014257.1:c.318C>G, XM_017014258.2:c.264C>G, XM_017014258.1:c.264C>G, NP_009027.1:p.Asn184Lys, NP_001171689.1:p.Asn166Lys, NP_001298133.1:p.Asn132Lys, NP_001298134.1:p.Asn114Lys, XP_016869746.1:p.Asn106Lys, XP_016869747.1:p.Asn88Lys

Select item 136776892716.

rs1367768927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:36211740 (GRCh38)
9:36211737 (GRCh37)
Canonical SPDI:: NC_000009.12:36211739:T:C
Gene:: CLTA (Varview), LOC124902151 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.36211740T>C, NC_000009.11:g.36211737T>C, NM_007096.4:c.713T>C, NM_007096.3:c.713T>C, NM_001833.4:c.623T>C, NM_001833.3:c.623T>C, NM_001076677.3:c.677T>C, NM_001076677.2:c.677T>C, NM_001184760.2:c.659T>C, NM_001184760.1:c.659T>C, NM_001184761.2:c.*111T>C, NM_001184761.1:c.*111T>C, NM_001311206.2:c.272T>C, NM_001311206.1:c.272T>C, NM_001311204.2:c.557T>C, NM_001311204.1:c.557T>C, NR_132349.2:n.641T>C, NR_132349.1:n.706T>C, NM_001311205.2:c.503T>C, NM_001311205.1:c.503T>C, NM_001184762.2:c.467T>C, NM_001184762.1:c.467T>C, XM_017014257.2:c.479T>C, XM_017014257.1:c.479T>C, NM_001311203.2:c.389T>C, NM_001311203.1:c.389T>C, XM_017014258.2:c.425T>C, XM_017014258.1:c.425T>C, NP_009027.1:p.Leu238Pro, NP_001824.1:p.Leu208Pro, NP_001070145.1:p.Leu226Pro, NP_001171689.1:p.Leu220Pro, NP_001298135.1:p.Leu91Pro, NP_001298133.1:p.Leu186Pro, NP_001298134.1:p.Leu168Pro, NP_001171691.1:p.Leu156Pro, XP_016869746.1:p.Leu160Pro, NP_001298132.1:p.Leu130Pro, XP_016869747.1:p.Leu142Pro

Select item 136084022017.

rs1360840220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:36204089 (GRCh38)
9:36204086 (GRCh37)
Canonical SPDI:: NC_000009.12:36204088:A:C
Gene:: CLTA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.36204089A>C, NC_000009.11:g.36204086A>C, NM_007096.4:c.395A>C, NM_007096.3:c.395A>C, NM_001833.4:c.395A>C, NM_001833.3:c.395A>C, NM_001076677.3:c.395A>C, NM_001076677.2:c.395A>C, NM_001184760.2:c.395A>C, NM_001184760.1:c.395A>C, NM_001184761.2:c.395A>C, NM_001184761.1:c.395A>C, NM_001311206.2:c.44A>C, NM_001311206.1:c.44A>C, NM_001311204.2:c.239A>C, NM_001311204.1:c.239A>C, NR_132349.2:n.413A>C, NR_132349.1:n.478A>C, NM_001311205.2:c.239A>C, NM_001311205.1:c.239A>C, NM_001184762.2:c.239A>C, NM_001184762.1:c.239A>C, XM_017014257.2:c.161A>C, XM_017014257.1:c.161A>C, NM_001311203.2:c.161A>C, NM_001311203.1:c.161A>C, XM_017014258.2:c.161A>C, XM_017014258.1:c.161A>C, NP_009027.1:p.Glu132Ala, NP_001824.1:p.Glu132Ala, NP_001070145.1:p.Glu132Ala, NP_001171689.1:p.Glu132Ala, NP_001171690.1:p.Glu132Ala, NP_001298135.1:p.Glu15Ala, NP_001298133.1:p.Glu80Ala, NP_001298134.1:p.Glu80Ala, NP_001171691.1:p.Glu80Ala, XP_016869746.1:p.Glu54Ala, NP_001298132.1:p.Glu54Ala, XP_016869747.1:p.Glu54Ala

Select item 136070757518.

rs1360707575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:36204140 (GRCh38)
9:36204137 (GRCh37)
Canonical SPDI:: NC_000009.12:36204139:G:T
Gene:: CLTA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_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_000009.12:g.36204140G>T, NC_000009.11:g.36204137G>T, NM_007096.4:c.446G>T, NM_007096.3:c.446G>T, NM_001833.4:c.446G>T, NM_001833.3:c.446G>T, NM_001076677.3:c.446G>T, NM_001076677.2:c.446G>T, NM_001184760.2:c.446G>T, NM_001184760.1:c.446G>T, NM_001184761.2:c.446G>T, NM_001184761.1:c.446G>T, NM_001311206.2:c.95G>T, NM_001311206.1:c.95G>T, NM_001311204.2:c.290G>T, NM_001311204.1:c.290G>T, NR_132349.2:n.464G>T, NR_132349.1:n.529G>T, NM_001311205.2:c.290G>T, NM_001311205.1:c.290G>T, NM_001184762.2:c.290G>T, NM_001184762.1:c.290G>T, XM_017014257.2:c.212G>T, XM_017014257.1:c.212G>T, NM_001311203.2:c.212G>T, NM_001311203.1:c.212G>T, XM_017014258.2:c.212G>T, XM_017014258.1:c.212G>T, NP_009027.1:p.Arg149Ile, NP_001824.1:p.Arg149Ile, NP_001070145.1:p.Arg149Ile, NP_001171689.1:p.Arg149Ile, NP_001171690.1:p.Arg149Ile, NP_001298135.1:p.Arg32Ile, NP_001298133.1:p.Arg97Ile, NP_001298134.1:p.Arg97Ile, NP_001171691.1:p.Arg97Ile, XP_016869746.1:p.Arg71Ile, NP_001298132.1:p.Arg71Ile, XP_016869747.1:p.Arg71Ile

Select item 134588099019.

rs1345880990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:36197571 (GRCh38)
9:36197568 (GRCh37)
Canonical SPDI:: NC_000009.12:36197570:A:G
Gene:: CLTA (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000009.12:g.36197571A>G, NC_000009.11:g.36197568A>G, NM_007096.4:c.238A>G, NM_007096.3:c.238A>G, NM_001833.4:c.238A>G, NM_001833.3:c.238A>G, NM_001076677.3:c.238A>G, NM_001076677.2:c.238A>G, NM_001184760.2:c.238A>G, NM_001184760.1:c.238A>G, NM_001184761.2:c.238A>G, NM_001184761.1:c.238A>G, NR_132349.2:n.374A>G, NR_132349.1:n.439A>G, XM_017014257.2:c.4A>G, XM_017014257.1:c.4A>G, NM_001311203.2:c.4A>G, NM_001311203.1:c.4A>G, XM_017014258.2:c.4A>G, XM_017014258.1:c.4A>G, NP_009027.1:p.Asn80Asp, NP_001824.1:p.Asn80Asp, NP_001070145.1:p.Asn80Asp, NP_001171689.1:p.Asn80Asp, NP_001171690.1:p.Asn80Asp, XP_016869746.1:p.Asn2Asp, NP_001298132.1:p.Asn2Asp, XP_016869747.1:p.Asn2Asp

Select item 134038225820.

rs1340382258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:36204090 (GRCh38)
9:36204087 (GRCh37)
Canonical SPDI:: NC_000009.12:36204089:A:G
Gene:: CLTA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.36204090A>G, NC_000009.11:g.36204087A>G, NM_007096.4:c.396A>G, NM_007096.3:c.396A>G, NM_001833.4:c.396A>G, NM_001833.3:c.396A>G, NM_001076677.3:c.396A>G, NM_001076677.2:c.396A>G, NM_001184760.2:c.396A>G, NM_001184760.1:c.396A>G, NM_001184761.2:c.396A>G, NM_001184761.1:c.396A>G, NM_001311206.2:c.45A>G, NM_001311206.1:c.45A>G, NM_001311204.2:c.240A>G, NM_001311204.1:c.240A>G, NR_132349.2:n.414A>G, NR_132349.1:n.479A>G, NM_001311205.2:c.240A>G, NM_001311205.1:c.240A>G, NM_001184762.2:c.240A>G, NM_001184762.1:c.240A>G, XM_017014257.2:c.162A>G, XM_017014257.1:c.162A>G, NM_001311203.2:c.162A>G, NM_001311203.1:c.162A>G, XM_017014258.2:c.162A>G, XM_017014258.1:c.162A>G

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