SNP Links for Protein (Select 665505973) - SNP

Links from Protein

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Select item 14897188361.

rs1489718836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7477427 (GRCh38)
19:7542313 (GRCh37)
Canonical SPDI:: NC_000019.10:7477426:G:A
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7477427G>A, NC_000019.9:g.7542313G>A, NG_047135.1:g.133517G>A, NM_080662.4:c.501C>T, NM_080662.3:c.501C>T, XM_011527836.3:c.*534G>A, XM_011528429.3:c.291C>T, XM_011528429.2:c.291C>T, XM_011528429.1:c.291C>T, XM_011528431.3:c.291C>T, XM_011528431.2:c.291C>T, XM_011528431.1:c.291C>T, XM_005272506.3:c.438C>T, XM_005272506.2:c.438C>T, XM_005272506.1:c.438C>T, NM_001300881.2:c.291C>T, NM_001300881.1:c.291C>T, XM_047438526.1:c.*534G>A, XM_011528428.1:c.291C>T

Select item 14891398242.

rs1489139824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7482133 (GRCh38)
19:7547019 (GRCh37)
Canonical SPDI:: NC_000019.10:7482132:C:T
Gene:: PEX11G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.7482133C>T, NC_000019.9:g.7547019C>T, NM_080662.4:c.328G>A, NM_080662.3:c.328G>A, XM_011528429.3:c.118G>A, XM_011528429.2:c.118G>A, XM_011528429.1:c.118G>A, XM_011528431.3:c.118G>A, XM_011528431.2:c.118G>A, XM_011528431.1:c.118G>A, XM_005272506.3:c.328G>A, XM_005272506.2:c.328G>A, XM_005272506.1:c.328G>A, XM_011528426.3:c.328G>A, XM_011528426.2:c.328G>A, XM_011528426.1:c.328G>A, XM_011528427.3:c.328G>A, XM_011528427.2:c.328G>A, XM_011528427.1:c.328G>A, NM_001300881.2:c.118G>A, NM_001300881.1:c.118G>A, NM_001270539.2:c.328G>A, NM_001270539.1:c.328G>A, XM_011528432.2:c.328G>A, XM_011528432.1:c.328G>A, XM_011528428.1:c.118G>A, NP_542393.1:p.Ala110Thr, XP_011526731.1:p.Ala40Thr, XP_011526733.1:p.Ala40Thr, XP_005272563.1:p.Ala110Thr, XP_011526728.1:p.Ala110Thr, XP_011526729.1:p.Ala110Thr, NP_001287810.1:p.Ala40Thr, NP_001257468.1:p.Ala110Thr, XP_011526734.1:p.Ala110Thr, XP_011526730.1:p.Ala40Thr

Select item 14872101643.

rs1487210164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:7477318 (GRCh38)
19:7542204 (GRCh37)
Canonical SPDI:: NC_000019.10:7477317:G:A,NC_000019.10:7477317:G:C
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.7477318G>A, NC_000019.10:g.7477318G>C, NC_000019.9:g.7542204G>A, NC_000019.9:g.7542204G>C, NG_047135.1:g.133408G>A, NG_047135.1:g.133408G>C, NM_080662.4:c.610C>T, NM_080662.4:c.610C>G, NM_080662.3:c.610C>T, NM_080662.3:c.610C>G, XM_011527836.3:c.*425G>A, XM_011527836.3:c.*425G>C, XM_011528429.3:c.400C>T, XM_011528429.3:c.400C>G, XM_011528429.2:c.400C>T, XM_011528429.2:c.400C>G, XM_011528429.1:c.400C>T, XM_011528429.1:c.400C>G, XM_011528431.3:c.400C>T, XM_011528431.3:c.400C>G, XM_011528431.2:c.400C>T, XM_011528431.2:c.400C>G, XM_011528431.1:c.400C>T, XM_011528431.1:c.400C>G, XM_005272506.3:c.547C>T, XM_005272506.3:c.547C>G, XM_005272506.2:c.547C>T, XM_005272506.2:c.547C>G, XM_005272506.1:c.547C>T, XM_005272506.1:c.547C>G, NM_001300881.2:c.400C>T, NM_001300881.2:c.400C>G, NM_001300881.1:c.400C>T, NM_001300881.1:c.400C>G, XM_047438526.1:c.*425G>A, XM_047438526.1:c.*425G>C, XM_011528428.1:c.400C>T, XM_011528428.1:c.400C>G, NP_542393.1:p.Leu204Val, XP_011526731.1:p.Leu134Val, XP_011526733.1:p.Leu134Val, XP_005272563.1:p.Leu183Val, NP_001287810.1:p.Leu134Val, XP_011526730.1:p.Leu134Val

Select item 14797097894.

rs1479709789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:7477213 (GRCh38)
19:7542099 (GRCh37)
Canonical SPDI:: NC_000019.10:7477212:T:A
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7477213T>A, NC_000019.9:g.7542099T>A, NG_047135.1:g.133303T>A, NM_080662.4:c.715A>T, NM_080662.3:c.715A>T, XM_011527836.3:c.*320T>A, XM_011528429.3:c.505A>T, XM_011528429.2:c.505A>T, XM_011528429.1:c.505A>T, XM_011528431.3:c.505A>T, XM_011528431.2:c.505A>T, XM_011528431.1:c.505A>T, XM_005272506.3:c.652A>T, XM_005272506.2:c.652A>T, XM_005272506.1:c.652A>T, NM_001300881.2:c.505A>T, NM_001300881.1:c.505A>T, NM_001270539.2:c.532A>T, NM_001270539.1:c.532A>T, XM_011528432.2:c.469A>T, XM_011528432.1:c.469A>T, XM_047438526.1:c.*320T>A, XM_011528428.1:c.505A>T, NP_542393.1:p.Thr239Ser, XP_011526731.1:p.Thr169Ser, XP_011526733.1:p.Thr169Ser, XP_005272563.1:p.Thr218Ser, NP_001287810.1:p.Thr169Ser, NP_001257468.1:p.Thr178Ser, XP_011526734.1:p.Thr157Ser, XP_011526730.1:p.Thr169Ser

Select item 14759084595.

rs1475908459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7482200 (GRCh38)
19:7547086 (GRCh37)
Canonical SPDI:: NC_000019.10:7482199:G:A
Gene:: PEX11G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000019.10:g.7482200G>A, NC_000019.9:g.7547086G>A, NM_080662.4:c.261C>T, NM_080662.3:c.261C>T, XM_011528429.3:c.51C>T, XM_011528429.2:c.51C>T, XM_011528429.1:c.51C>T, XM_011528431.3:c.51C>T, XM_011528431.2:c.51C>T, XM_011528431.1:c.51C>T, XM_005272506.3:c.261C>T, XM_005272506.2:c.261C>T, XM_005272506.1:c.261C>T, XM_011528426.3:c.261C>T, XM_011528426.2:c.261C>T, XM_011528426.1:c.261C>T, XM_011528427.3:c.261C>T, XM_011528427.2:c.261C>T, XM_011528427.1:c.261C>T, NM_001300881.2:c.51C>T, NM_001300881.1:c.51C>T, NM_001270539.2:c.261C>T, NM_001270539.1:c.261C>T, XM_011528432.2:c.261C>T, XM_011528432.1:c.261C>T, XM_011528428.1:c.51C>T

Select item 14695485666.

rs1469548566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:7482095 (GRCh38)
19:7546981 (GRCh37)
Canonical SPDI:: NC_000019.10:7482094:A:G
Gene:: PEX11G (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.7482095A>G, NC_000019.9:g.7546981A>G, NM_080662.4:c.366T>C, NM_080662.3:c.366T>C, XM_011528429.3:c.156T>C, XM_011528429.2:c.156T>C, XM_011528429.1:c.156T>C, XM_011528431.3:c.156T>C, XM_011528431.2:c.156T>C, XM_011528431.1:c.156T>C, XM_005272506.3:c.366T>C, XM_005272506.2:c.366T>C, XM_005272506.1:c.366T>C, XM_011528426.3:c.366T>C, XM_011528426.2:c.366T>C, XM_011528426.1:c.366T>C, XM_011528427.3:c.366T>C, XM_011528427.2:c.366T>C, XM_011528427.1:c.366T>C, NM_001300881.2:c.156T>C, NM_001300881.1:c.156T>C, NM_001270539.2:c.366T>C, NM_001270539.1:c.366T>C, XM_011528432.2:c.366T>C, XM_011528432.1:c.366T>C, XM_011528428.1:c.156T>C

Select item 14663908927.

rs1466390892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7482155 (GRCh38)
19:7547041 (GRCh37)
Canonical SPDI:: NC_000019.10:7482154:G:A
Gene:: PEX11G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7482155G>A, NC_000019.9:g.7547041G>A, NM_080662.4:c.306C>T, NM_080662.3:c.306C>T, XM_011528429.3:c.96C>T, XM_011528429.2:c.96C>T, XM_011528429.1:c.96C>T, XM_011528431.3:c.96C>T, XM_011528431.2:c.96C>T, XM_011528431.1:c.96C>T, XM_005272506.3:c.306C>T, XM_005272506.2:c.306C>T, XM_005272506.1:c.306C>T, XM_011528426.3:c.306C>T, XM_011528426.2:c.306C>T, XM_011528426.1:c.306C>T, XM_011528427.3:c.306C>T, XM_011528427.2:c.306C>T, XM_011528427.1:c.306C>T, NM_001300881.2:c.96C>T, NM_001300881.1:c.96C>T, NM_001270539.2:c.306C>T, NM_001270539.1:c.306C>T, XM_011528432.2:c.306C>T, XM_011528432.1:c.306C>T, XM_011528428.1:c.96C>T

Select item 14602088088.

rs1460208808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:7478348 (GRCh38)
19:7543234 (GRCh37)
Canonical SPDI:: NC_000019.10:7478347:G:C
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7478348G>C, NC_000019.9:g.7543234G>C, NG_047135.1:g.134438G>C, NM_080662.4:c.457C>G, NM_080662.3:c.457C>G, XM_011527836.3:c.*1455G>C, XM_011528429.3:c.247C>G, XM_011528429.2:c.247C>G, XM_011528429.1:c.247C>G, XM_011528431.3:c.247C>G, XM_011528431.2:c.247C>G, XM_011528431.1:c.247C>G, NM_001300881.2:c.247C>G, NM_001300881.1:c.247C>G, NM_001270539.2:c.457C>G, NM_001270539.1:c.457C>G, XM_047438526.1:c.*1455G>C, XM_011528428.1:c.247C>G, NP_542393.1:p.Gln153Glu, XP_011526731.1:p.Gln83Glu, XP_011526733.1:p.Gln83Glu, NP_001287810.1:p.Gln83Glu, NP_001257468.1:p.Gln153Glu, XP_011526730.1:p.Gln83Glu

Select item 14594741999.

rs1459474199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7482163 (GRCh38)
19:7547049 (GRCh37)
Canonical SPDI:: NC_000019.10:7482162:C:T
Gene:: PEX11G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.7482163C>T, NC_000019.9:g.7547049C>T, NM_080662.4:c.298G>A, NM_080662.3:c.298G>A, XM_011528429.3:c.88G>A, XM_011528429.2:c.88G>A, XM_011528429.1:c.88G>A, XM_011528431.3:c.88G>A, XM_011528431.2:c.88G>A, XM_011528431.1:c.88G>A, XM_005272506.3:c.298G>A, XM_005272506.2:c.298G>A, XM_005272506.1:c.298G>A, XM_011528426.3:c.298G>A, XM_011528426.2:c.298G>A, XM_011528426.1:c.298G>A, XM_011528427.3:c.298G>A, XM_011528427.2:c.298G>A, XM_011528427.1:c.298G>A, NM_001300881.2:c.88G>A, NM_001300881.1:c.88G>A, NM_001270539.2:c.298G>A, NM_001270539.1:c.298G>A, XM_011528432.2:c.298G>A, XM_011528432.1:c.298G>A, XM_011528428.1:c.88G>A, NP_542393.1:p.Asp100Asn, XP_011526731.1:p.Asp30Asn, XP_011526733.1:p.Asp30Asn, XP_005272563.1:p.Asp100Asn, XP_011526728.1:p.Asp100Asn, XP_011526729.1:p.Asp100Asn, NP_001287810.1:p.Asp30Asn, NP_001257468.1:p.Asp100Asn, XP_011526734.1:p.Asp100Asn, XP_011526730.1:p.Asp30Asn

Select item 145938753510.

rs1459387535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7477397 (GRCh38)
19:7542283 (GRCh37)
Canonical SPDI:: NC_000019.10:7477396:C:T
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.7477397C>T, NC_000019.9:g.7542283C>T, NG_047135.1:g.133487C>T, NM_080662.4:c.531G>A, NM_080662.3:c.531G>A, XM_011527836.3:c.*504C>T, XM_011528429.3:c.321G>A, XM_011528429.2:c.321G>A, XM_011528429.1:c.321G>A, XM_011528431.3:c.321G>A, XM_011528431.2:c.321G>A, XM_011528431.1:c.321G>A, XM_005272506.3:c.468G>A, XM_005272506.2:c.468G>A, XM_005272506.1:c.468G>A, NM_001300881.2:c.321G>A, NM_001300881.1:c.321G>A, XM_047438526.1:c.*504C>T, XM_011528428.1:c.321G>A

Select item 145803783311.

rs1458037833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:7477254 (GRCh38)
19:7542140 (GRCh37)
Canonical SPDI:: NC_000019.10:7477253:C:A,NC_000019.10:7477253:C:T
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: 3_prime_UTR_variant,splice_acceptor_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7477254C>A, NC_000019.10:g.7477254C>T, NC_000019.9:g.7542140C>A, NC_000019.9:g.7542140C>T, NG_047135.1:g.133344C>A, NG_047135.1:g.133344C>T, NM_080662.4:c.674G>T, NM_080662.4:c.674G>A, NM_080662.3:c.674G>T, NM_080662.3:c.674G>A, XM_011527836.3:c.*361C>A, XM_011527836.3:c.*361C>T, XM_011528429.3:c.464G>T, XM_011528429.3:c.464G>A, XM_011528429.2:c.464G>T, XM_011528429.2:c.464G>A, XM_011528429.1:c.464G>T, XM_011528429.1:c.464G>A, XM_011528431.3:c.464G>T, XM_011528431.3:c.464G>A, XM_011528431.2:c.464G>T, XM_011528431.2:c.464G>A, XM_011528431.1:c.464G>T, XM_011528431.1:c.464G>A, XM_005272506.3:c.611G>T, XM_005272506.3:c.611G>A, XM_005272506.2:c.611G>T, XM_005272506.2:c.611G>A, XM_005272506.1:c.611G>T, XM_005272506.1:c.611G>A, NM_001300881.2:c.464G>T, NM_001300881.2:c.464G>A, NM_001300881.1:c.464G>T, NM_001300881.1:c.464G>A, XM_047438526.1:c.*361C>A, XM_047438526.1:c.*361C>T, XM_011528428.1:c.464G>T, XM_011528428.1:c.464G>A, NP_542393.1:p.Ser225Ile, NP_542393.1:p.Ser225Asn, XP_011526731.1:p.Ser155Ile, XP_011526731.1:p.Ser155Asn, XP_011526733.1:p.Ser155Ile, XP_011526733.1:p.Ser155Asn, XP_005272563.1:p.Ser204Ile, XP_005272563.1:p.Ser204Asn, NP_001287810.1:p.Ser155Ile, NP_001287810.1:p.Ser155Asn, XP_011526730.1:p.Ser155Ile, XP_011526730.1:p.Ser155Asn

Select item 145788944812.

rs1457889448 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTAAT [Show Flanks]
Chromosome:: 19:7482070 (GRCh38)
19:7546957 (GRCh37)
Canonical SPDI:: NC_000019.10:7482070:T:TTTTTAAT
Gene:: PEX11G (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000019.10:g.7482071T[5]AAT[1], NC_000019.9:g.7546957T[5]AAT[1], NM_080662.4:c.390_391insTTAAAAA, NM_080662.3:c.390_391insTTAAAAA, XM_011528429.3:c.180_181insTTAAAAA, XM_011528429.2:c.180_181insTTAAAAA, XM_011528429.1:c.180_181insTTAAAAA, XM_011528431.3:c.180_181insTTAAAAA, XM_011528431.2:c.180_181insTTAAAAA, XM_011528431.1:c.180_181insTTAAAAA, XM_005272506.3:c.390_391insTTAAAAA, XM_005272506.2:c.390_391insTTAAAAA, XM_005272506.1:c.390_391insTTAAAAA, XM_011528426.3:c.390_391insTTAAAAA, XM_011528426.2:c.390_391insTTAAAAA, XM_011528426.1:c.390_391insTTAAAAA, XM_011528427.3:c.390_391insTTAAAAA, XM_011528427.2:c.390_391insTTAAAAA, XM_011528427.1:c.390_391insTTAAAAA, NM_001300881.2:c.180_181insTTAAAAA, NM_001300881.1:c.180_181insTTAAAAA, NM_001270539.2:c.390_391insTTAAAAA, NM_001270539.1:c.390_391insTTAAAAA, XM_011528432.2:c.390_391insTTAAAAA, XM_011528432.1:c.390_391insTTAAAAA, XM_011528428.1:c.180_181insTTAAAAA, NP_542393.1:p.Thr131fs, XP_011526731.1:p.Thr61fs, XP_011526733.1:p.Thr61fs, XP_005272563.1:p.Thr131fs, XP_011526728.1:p.Thr131fs, XP_011526729.1:p.Thr131fs, NP_001287810.1:p.Thr61fs, NP_001257468.1:p.Thr131fs, XP_011526734.1:p.Thr131fs, XP_011526730.1:p.Thr61fs

Select item 145699950513.

rs1456999505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:7478319 (GRCh38)
19:7543205 (GRCh37)
Canonical SPDI:: NC_000019.10:7478318:G:T
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.7478319G>T, NC_000019.9:g.7543205G>T, NG_047135.1:g.134409G>T, NM_080662.4:c.486C>A, NM_080662.3:c.486C>A, XM_011527836.3:c.*1426G>T, XM_011528429.3:c.276C>A, XM_011528429.2:c.276C>A, XM_011528429.1:c.276C>A, XM_011528431.3:c.276C>A, XM_011528431.2:c.276C>A, XM_011528431.1:c.276C>A, NM_001300881.2:c.276C>A, NM_001300881.1:c.276C>A, NM_001270539.2:c.486C>A, NM_001270539.1:c.486C>A, XM_047438526.1:c.*1426G>T, XM_011528428.1:c.276C>A, NP_542393.1:p.Phe162Leu, XP_011526731.1:p.Phe92Leu, XP_011526733.1:p.Phe92Leu, NP_001287810.1:p.Phe92Leu, NP_001257468.1:p.Phe162Leu, XP_011526730.1:p.Phe92Leu

Select item 145514814814.

rs1455148148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:7477225 (GRCh38)
19:7542111 (GRCh37)
Canonical SPDI:: NC_000019.10:7477224:G:A
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.7477225G>A, NC_000019.9:g.7542111G>A, NG_047135.1:g.133315G>A, NM_080662.4:c.703C>T, NM_080662.3:c.703C>T, XM_011527836.3:c.*332G>A, XM_011528429.3:c.493C>T, XM_011528429.2:c.493C>T, XM_011528429.1:c.493C>T, XM_011528431.3:c.493C>T, XM_011528431.2:c.493C>T, XM_011528431.1:c.493C>T, XM_005272506.3:c.640C>T, XM_005272506.2:c.640C>T, XM_005272506.1:c.640C>T, NM_001300881.2:c.493C>T, NM_001300881.1:c.493C>T, NM_001270539.2:c.520C>T, NM_001270539.1:c.520C>T, XM_011528432.2:c.457C>T, XM_011528432.1:c.457C>T, XM_047438526.1:c.*332G>A, XM_011528428.1:c.493C>T, NP_542393.1:p.Gln235Ter, XP_011526731.1:p.Gln165Ter, XP_011526733.1:p.Gln165Ter, XP_005272563.1:p.Gln214Ter, NP_001287810.1:p.Gln165Ter, NP_001257468.1:p.Gln174Ter, XP_011526734.1:p.Gln153Ter, XP_011526730.1:p.Gln165Ter

Select item 145225884015.

rs1452258840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7482062 (GRCh38)
19:7546948 (GRCh37)
Canonical SPDI:: NC_000019.10:7482061:C:T
Gene:: PEX11G (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7482062C>T, NC_000019.9:g.7546948C>T, NM_080662.4:c.399G>A, NM_080662.3:c.399G>A, XM_011528429.3:c.189G>A, XM_011528429.2:c.189G>A, XM_011528429.1:c.189G>A, XM_011528431.3:c.189G>A, XM_011528431.2:c.189G>A, XM_011528431.1:c.189G>A, XM_005272506.3:c.399G>A, XM_005272506.2:c.399G>A, XM_005272506.1:c.399G>A, XM_011528426.3:c.399G>A, XM_011528426.2:c.399G>A, XM_011528426.1:c.399G>A, XM_011528427.3:c.399G>A, XM_011528427.2:c.399G>A, XM_011528427.1:c.399G>A, NM_001300881.2:c.189G>A, NM_001300881.1:c.189G>A, NM_001270539.2:c.399G>A, NM_001270539.1:c.399G>A, XM_011528432.2:c.399G>A, XM_011528432.1:c.399G>A, XM_011528428.1:c.189G>A, NP_542393.1:p.Trp133Ter, XP_011526731.1:p.Trp63Ter, XP_011526733.1:p.Trp63Ter, XP_005272563.1:p.Trp133Ter, XP_011526728.1:p.Trp133Ter, XP_011526729.1:p.Trp133Ter, NP_001287810.1:p.Trp63Ter, NP_001257468.1:p.Trp133Ter, XP_011526734.1:p.Trp133Ter, XP_011526730.1:p.Trp63Ter

Select item 145224049716.

rs1452240497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:7482057 (GRCh38)
19:7546943 (GRCh37)
Canonical SPDI:: NC_000019.10:7482056:A:C
Gene:: PEX11G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000009/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.7482057A>C, NC_000019.9:g.7546943A>C, NM_080662.4:c.404T>G, NM_080662.3:c.404T>G, XM_011528429.3:c.194T>G, XM_011528429.2:c.194T>G, XM_011528429.1:c.194T>G, XM_011528431.3:c.194T>G, XM_011528431.2:c.194T>G, XM_011528431.1:c.194T>G, XM_005272506.3:c.404T>G, XM_005272506.2:c.404T>G, XM_005272506.1:c.404T>G, XM_011528426.3:c.404T>G, XM_011528426.2:c.404T>G, XM_011528426.1:c.404T>G, XM_011528427.3:c.404T>G, XM_011528427.2:c.404T>G, XM_011528427.1:c.404T>G, NM_001300881.2:c.194T>G, NM_001300881.1:c.194T>G, NM_001270539.2:c.404T>G, NM_001270539.1:c.404T>G, XM_011528432.2:c.404T>G, XM_011528432.1:c.404T>G, XM_011528428.1:c.194T>G, NP_542393.1:p.Leu135Arg, XP_011526731.1:p.Leu65Arg, XP_011526733.1:p.Leu65Arg, XP_005272563.1:p.Leu135Arg, XP_011526728.1:p.Leu135Arg, XP_011526729.1:p.Leu135Arg, NP_001287810.1:p.Leu65Arg, NP_001257468.1:p.Leu135Arg, XP_011526734.1:p.Leu135Arg, XP_011526730.1:p.Leu65Arg

Select item 145069628817.

rs1450696288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:7482082 (GRCh38)
19:7546968 (GRCh37)
Canonical SPDI:: NC_000019.10:7482081:T:G
Gene:: PEX11G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00944/112 (ALFA)
G=0.00342/10 (KOREAN)
HGVS:: NC_000019.10:g.7482082T>G, NC_000019.9:g.7546968T>G, NM_080662.4:c.379A>C, NM_080662.3:c.379A>C, XM_011528429.3:c.169A>C, XM_011528429.2:c.169A>C, XM_011528429.1:c.169A>C, XM_011528431.3:c.169A>C, XM_011528431.2:c.169A>C, XM_011528431.1:c.169A>C, XM_005272506.3:c.379A>C, XM_005272506.2:c.379A>C, XM_005272506.1:c.379A>C, XM_011528426.3:c.379A>C, XM_011528426.2:c.379A>C, XM_011528426.1:c.379A>C, XM_011528427.3:c.379A>C, XM_011528427.2:c.379A>C, XM_011528427.1:c.379A>C, NM_001300881.2:c.169A>C, NM_001300881.1:c.169A>C, NM_001270539.2:c.379A>C, NM_001270539.1:c.379A>C, XM_011528432.2:c.379A>C, XM_011528432.1:c.379A>C, XM_011528428.1:c.169A>C, NP_542393.1:p.Thr127Pro, XP_011526731.1:p.Thr57Pro, XP_011526733.1:p.Thr57Pro, XP_005272563.1:p.Thr127Pro, XP_011526728.1:p.Thr127Pro, XP_011526729.1:p.Thr127Pro, NP_001287810.1:p.Thr57Pro, NP_001257468.1:p.Thr127Pro, XP_011526734.1:p.Thr127Pro, XP_011526730.1:p.Thr57Pro

Select item 144788197618.

rs1447881976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:7477234 (GRCh38)
19:7542120 (GRCh37)
Canonical SPDI:: NC_000019.10:7477233:C:T
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7477234C>T, NC_000019.9:g.7542120C>T, NG_047135.1:g.133324C>T, NM_080662.4:c.694G>A, NM_080662.3:c.694G>A, XM_011527836.3:c.*341C>T, XM_011528429.3:c.484G>A, XM_011528429.2:c.484G>A, XM_011528429.1:c.484G>A, XM_011528431.3:c.484G>A, XM_011528431.2:c.484G>A, XM_011528431.1:c.484G>A, XM_005272506.3:c.631G>A, XM_005272506.2:c.631G>A, XM_005272506.1:c.631G>A, NM_001300881.2:c.484G>A, NM_001300881.1:c.484G>A, NM_001270539.2:c.511G>A, NM_001270539.1:c.511G>A, XM_011528432.2:c.448G>A, XM_011528432.1:c.448G>A, XM_047438526.1:c.*341C>T, XM_011528428.1:c.484G>A, NP_542393.1:p.Ala232Thr, XP_011526731.1:p.Ala162Thr, XP_011526733.1:p.Ala162Thr, XP_005272563.1:p.Ala211Thr, NP_001287810.1:p.Ala162Thr, NP_001257468.1:p.Ala171Thr, XP_011526734.1:p.Ala150Thr, XP_011526730.1:p.Ala162Thr

Select item 144776709619.

rs1447767096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:7482103 (GRCh38)
19:7546989 (GRCh37)
Canonical SPDI:: NC_000019.10:7482102:C:A,NC_000019.10:7482102:C:T
Gene:: PEX11G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000101/3 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.7482103C>A, NC_000019.10:g.7482103C>T, NC_000019.9:g.7546989C>A, NC_000019.9:g.7546989C>T, NM_080662.4:c.358G>T, NM_080662.4:c.358G>A, NM_080662.3:c.358G>T, NM_080662.3:c.358G>A, XM_011528429.3:c.148G>T, XM_011528429.3:c.148G>A, XM_011528429.2:c.148G>T, XM_011528429.2:c.148G>A, XM_011528429.1:c.148G>T, XM_011528429.1:c.148G>A, XM_011528431.3:c.148G>T, XM_011528431.3:c.148G>A, XM_011528431.2:c.148G>T, XM_011528431.2:c.148G>A, XM_011528431.1:c.148G>T, XM_011528431.1:c.148G>A, XM_005272506.3:c.358G>T, XM_005272506.3:c.358G>A, XM_005272506.2:c.358G>T, XM_005272506.2:c.358G>A, XM_005272506.1:c.358G>T, XM_005272506.1:c.358G>A, XM_011528426.3:c.358G>T, XM_011528426.3:c.358G>A, XM_011528426.2:c.358G>T, XM_011528426.2:c.358G>A, XM_011528426.1:c.358G>T, XM_011528426.1:c.358G>A, XM_011528427.3:c.358G>T, XM_011528427.3:c.358G>A, XM_011528427.2:c.358G>T, XM_011528427.2:c.358G>A, XM_011528427.1:c.358G>T, XM_011528427.1:c.358G>A, NM_001300881.2:c.148G>T, NM_001300881.2:c.148G>A, NM_001300881.1:c.148G>T, NM_001300881.1:c.148G>A, NM_001270539.2:c.358G>T, NM_001270539.2:c.358G>A, NM_001270539.1:c.358G>T, NM_001270539.1:c.358G>A, XM_011528432.2:c.358G>T, XM_011528432.2:c.358G>A, XM_011528432.1:c.358G>T, XM_011528432.1:c.358G>A, XM_011528428.1:c.148G>T, XM_011528428.1:c.148G>A, NP_542393.1:p.Val120Leu, NP_542393.1:p.Val120Met, XP_011526731.1:p.Val50Leu, XP_011526731.1:p.Val50Met, XP_011526733.1:p.Val50Leu, XP_011526733.1:p.Val50Met, XP_005272563.1:p.Val120Leu, XP_005272563.1:p.Val120Met, XP_011526728.1:p.Val120Leu, XP_011526728.1:p.Val120Met, XP_011526729.1:p.Val120Leu, XP_011526729.1:p.Val120Met, NP_001287810.1:p.Val50Leu, NP_001287810.1:p.Val50Met, NP_001257468.1:p.Val120Leu, NP_001257468.1:p.Val120Met, XP_011526734.1:p.Val120Leu, XP_011526734.1:p.Val120Met, XP_011526730.1:p.Val50Leu, XP_011526730.1:p.Val50Met

Select item 144287747420.

rs1442877474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:7477372 (GRCh38)
19:7542258 (GRCh37)
Canonical SPDI:: NC_000019.10:7477371:G:A,NC_000019.10:7477371:G:T
Gene:: ARHGEF18 (Varview), PEX11G (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.7477372G>A, NC_000019.10:g.7477372G>T, NC_000019.9:g.7542258G>A, NC_000019.9:g.7542258G>T, NG_047135.1:g.133462G>A, NG_047135.1:g.133462G>T, NM_080662.4:c.556C>T, NM_080662.4:c.556C>A, NM_080662.3:c.556C>T, NM_080662.3:c.556C>A, XM_011527836.3:c.*479G>A, XM_011527836.3:c.*479G>T, XM_011528429.3:c.346C>T, XM_011528429.3:c.346C>A, XM_011528429.2:c.346C>T, XM_011528429.2:c.346C>A, XM_011528429.1:c.346C>T, XM_011528429.1:c.346C>A, XM_011528431.3:c.346C>T, XM_011528431.3:c.346C>A, XM_011528431.2:c.346C>T, XM_011528431.2:c.346C>A, XM_011528431.1:c.346C>T, XM_011528431.1:c.346C>A, XM_005272506.3:c.493C>T, XM_005272506.3:c.493C>A, XM_005272506.2:c.493C>T, XM_005272506.2:c.493C>A, XM_005272506.1:c.493C>T, XM_005272506.1:c.493C>A, NM_001300881.2:c.346C>T, NM_001300881.2:c.346C>A, NM_001300881.1:c.346C>T, NM_001300881.1:c.346C>A, XM_047438526.1:c.*479G>A, XM_047438526.1:c.*479G>T, XM_011528428.1:c.346C>T, XM_011528428.1:c.346C>A, NP_542393.1:p.Leu186Phe, NP_542393.1:p.Leu186Ile, XP_011526731.1:p.Leu116Phe, XP_011526731.1:p.Leu116Ile, XP_011526733.1:p.Leu116Phe, XP_011526733.1:p.Leu116Ile, XP_005272563.1:p.Leu165Phe, XP_005272563.1:p.Leu165Ile, NP_001287810.1:p.Leu116Phe, NP_001287810.1:p.Leu116Ile, XP_011526730.1:p.Leu116Phe, XP_011526730.1:p.Leu116Ile

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