SNP Links for Protein (Select 767938496) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172932476 (GRCh38)
5:172359479 (GRCh37)
Canonical SPDI:: NC_000005.10:172932475:G:A
Gene:: ERGIC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172932476G>A, NC_000005.9:g.172359479G>A, NM_001031711.3:c.582G>A, NM_001031711.2:c.582G>A, XM_011534597.2:c.654G>A, XM_011534597.1:c.654G>A, XM_047417411.1:c.306G>A

Select item 14551228308.

rs1455122830 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCTCT>- [Show Flanks]
Chromosome:: 5:172897038 (GRCh38)
5:172324041 (GRCh37)
Canonical SPDI:: NC_000005.10:172897025:TCCTCTTCCTCTTCCTCT:TCCTCTTCCTCT
Gene:: ERGIC1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTCTTCCTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.172897026TCCTCT[2], NC_000005.9:g.172324029TCCTCT[2], NM_001031711.3:c.107TCCTCT[2], NM_001031711.2:c.107TCCTCT[2], XM_011534597.2:c.179TCCTCT[2], XM_011534597.1:c.179TCCTCT[2], XM_017009655.2:c.179TCCTCT[2], XM_017009655.1:c.179TCCTCT[2], XM_047417405.1:c.179TCCTCT[2], XM_047417408.1:c.107TCCTCT[2], XM_047417411.1:c.-75TCCTCT[2], XM_047417403.1:c.179TCCTCT[2], XM_047417407.1:c.179TCCTCT[2], XM_047417406.1:c.179TCCTCT[2], XM_047417404.1:c.107TCCTCT[2], XM_047417412.1:c.107TCCTCT[2], XM_047417410.1:c.107TCCTCT[2], NP_001026881.1:p.38FL[1], XP_011532899.1:p.62FL[1], XP_016865144.1:p.62FL[1], XP_047273361.1:p.62FL[1], XP_047273364.1:p.38FL[1], XP_047273359.1:p.62FL[1], XP_047273363.1:p.62FL[1], XP_047273362.1:p.62FL[1], XP_047273360.1:p.38FL[1], XP_047273368.1:p.38FL[1], XP_047273366.1:p.38FL[1]

Select item 14477534609.

rs1447753460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172926569 (GRCh38)
5:172353572 (GRCh37)
Canonical SPDI:: NC_000005.10:172926568:C:T
Gene:: ERGIC1 (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=0.000054/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000028/7 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000041/5 (ExAC)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.172926569C>T, NC_000005.9:g.172353572C>T, NM_001031711.3:c.541C>T, NM_001031711.2:c.541C>T, XM_011534597.2:c.613C>T, XM_011534597.1:c.613C>T, XM_047417411.1:c.265C>T, XM_047417406.1:c.*102C>T, XM_047417410.1:c.*102C>T, NP_001026881.1:p.Pro181Ser, XP_011532899.1:p.Pro205Ser, XP_047273367.1:p.Pro89Ser

Select item 144473096810.

rs1444730968 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:172926532 (GRCh38)
5:172353535 (GRCh37)
Canonical SPDI:: NC_000005.10:172926531:C:
Gene:: ERGIC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172926532del, NC_000005.9:g.172353535del, NM_001031711.3:c.504del, NM_001031711.2:c.504del, XM_011534597.2:c.576del, XM_011534597.1:c.576del, XM_047417411.1:c.228del, XM_047417406.1:c.*65del, XM_047417410.1:c.*65del, NP_001026881.1:p.Phe168fs, XP_011532899.1:p.Phe192fs, XP_047273367.1:p.Phe76fs

Select item 144213083111.

rs1442130831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:172914822 (GRCh38)
5:172341825 (GRCh37)
Canonical SPDI:: NC_000005.10:172914821:A:G
Gene:: ERGIC1 (Varview), MIR10523 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.172914822A>G, NC_000005.9:g.172341825A>G, NM_001031711.3:c.359A>G, NM_001031711.2:c.359A>G, XM_011534597.2:c.431A>G, XM_011534597.1:c.431A>G, XM_017009655.2:c.431A>G, XM_017009655.1:c.431A>G, XM_047417405.1:c.431A>G, NM_020462.1:c.224A>G, XM_047417408.1:c.359A>G, XM_047417411.1:c.83A>G, XM_047417403.1:c.431A>G, XM_047417407.1:c.431A>G, XM_047417406.1:c.431A>G, XM_047417404.1:c.359A>G, XM_047417412.1:c.359A>G, XM_047417410.1:c.359A>G, NP_001026881.1:p.Gln120Arg, XP_011532899.1:p.Gln144Arg, XP_016865144.1:p.Gln144Arg, XP_047273361.1:p.Gln144Arg, XP_047273364.1:p.Gln120Arg, XP_047273367.1:p.Gln28Arg, XP_047273359.1:p.Gln144Arg, XP_047273363.1:p.Gln144Arg, XP_047273362.1:p.Gln144Arg, XP_047273360.1:p.Gln120Arg, XP_047273368.1:p.Gln120Arg, XP_047273366.1:p.Gln120Arg

Select item 144163476812.

rs1441634768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:172935191 (GRCh38)
5:172362194 (GRCh37)
Canonical SPDI:: NC_000005.10:172935190:T:A
Gene:: ERGIC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172935191T>A, NC_000005.9:g.172362194T>A, NM_001031711.3:c.646T>A, NM_001031711.2:c.646T>A, XM_011534597.2:c.718T>A, XM_011534597.1:c.718T>A, XM_047417411.1:c.370T>A, NP_001026881.1:p.Tyr216Asn, XP_011532899.1:p.Tyr240Asn, XP_047273367.1:p.Tyr124Asn

Select item 144009936413.

rs1440099364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:172924040 (GRCh38)
5:172351043 (GRCh37)
Canonical SPDI:: NC_000005.10:172924039:C:T
Gene:: ERGIC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
HGVS:: NC_000005.10:g.172924040C>T, NC_000005.9:g.172351043C>T, NM_001031711.3:c.411C>T, NM_001031711.2:c.411C>T, XM_011534597.2:c.483C>T, XM_011534597.1:c.483C>T, XM_047417411.1:c.135C>T, XM_047417406.1:c.656C>T, XM_047417410.1:c.584C>T, XP_047273362.1:p.Pro219Leu, XP_047273366.1:p.Pro195Leu

Select item 143977170414.

rs1439771704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:172935296 (GRCh38)
5:172362299 (GRCh37)
Canonical SPDI:: NC_000005.10:172935295:A:G
Gene:: ERGIC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.172935296A>G, NC_000005.9:g.172362299A>G, NM_001031711.3:c.751A>G, NM_001031711.2:c.751A>G, XM_011534597.2:c.823A>G, XM_011534597.1:c.823A>G, XM_047417411.1:c.475A>G, NP_001026881.1:p.Arg251Gly, XP_011532899.1:p.Arg275Gly, XP_047273367.1:p.Arg159Gly

Select item 143970038015.

rs1439700380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:172924005 (GRCh38)
5:172351008 (GRCh37)
Canonical SPDI:: NC_000005.10:172924004:G:T
Gene:: ERGIC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172924005G>T, NC_000005.9:g.172351008G>T, NM_001031711.3:c.376G>T, NM_001031711.2:c.376G>T, XM_011534597.2:c.448G>T, XM_011534597.1:c.448G>T, XM_047417411.1:c.100G>T, XM_047417406.1:c.621G>T, XM_047417410.1:c.549G>T, NP_001026881.1:p.Val126Phe, XP_011532899.1:p.Val150Phe, XP_047273367.1:p.Val34Phe, XP_047273362.1:p.Arg207Ser, XP_047273366.1:p.Arg183Ser

Select item 143808906416.

rs1438089064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:172854645 (GRCh38)
5:172281648 (GRCh37)
Canonical SPDI:: NC_000005.10:172854644:G:A,NC_000005.10:172854644:G:T
Gene:: ERGIC1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.172854645G>A, NC_000005.10:g.172854645G>T, NC_000005.9:g.172281648G>A, NC_000005.9:g.172281648G>T, XM_011534597.2:c.11G>A, XM_011534597.2:c.11G>T, XM_011534597.1:c.11G>A, XM_011534597.1:c.11G>T, XM_017009655.2:c.11G>A, XM_017009655.2:c.11G>T, XM_017009655.1:c.11G>A, XM_017009655.1:c.11G>T, XM_047417405.1:c.11G>A, XM_047417405.1:c.11G>T, XM_047417403.1:c.11G>A, XM_047417403.1:c.11G>T, XM_047417407.1:c.11G>A, XM_047417407.1:c.11G>T, XM_047417406.1:c.11G>A, XM_047417406.1:c.11G>T, XP_011532899.1:p.Arg4His, XP_011532899.1:p.Arg4Leu, XP_016865144.1:p.Arg4His, XP_016865144.1:p.Arg4Leu, XP_047273361.1:p.Arg4His, XP_047273361.1:p.Arg4Leu, XP_047273359.1:p.Arg4His, XP_047273359.1:p.Arg4Leu, XP_047273363.1:p.Arg4His, XP_047273363.1:p.Arg4Leu, XP_047273362.1:p.Arg4His, XP_047273362.1:p.Arg4Leu

Select item 143400648117.

rs1434006481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172909676 (GRCh38)
5:172336679 (GRCh37)
Canonical SPDI:: NC_000005.10:172909675:G:A
Gene:: ERGIC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00011/2 (TOMMO)
HGVS:: NC_000005.10:g.172909676G>A, NC_000005.9:g.172336679G>A, NM_001031711.3:c.165G>A, NM_001031711.2:c.165G>A, XM_011534597.2:c.237G>A, XM_011534597.1:c.237G>A, XM_017009655.2:c.237G>A, XM_017009655.1:c.237G>A, XM_047417405.1:c.237G>A, NM_020462.1:c.30G>A, XM_047417408.1:c.165G>A, XM_047417403.1:c.237G>A, XM_047417407.1:c.237G>A, XM_047417406.1:c.237G>A, XM_047417404.1:c.165G>A, XM_047417412.1:c.165G>A, XM_047417410.1:c.165G>A

Select item 142185449118.

rs1421854491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:172914773 (GRCh38)
5:172341776 (GRCh37)
Canonical SPDI:: NC_000005.10:172914772:T:G
Gene:: ERGIC1 (Varview), MIR10523 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172914773T>G, NC_000005.9:g.172341776T>G, NM_001031711.3:c.310T>G, NM_001031711.2:c.310T>G, XM_011534597.2:c.382T>G, XM_011534597.1:c.382T>G, XM_017009655.2:c.382T>G, XM_017009655.1:c.382T>G, XM_047417405.1:c.382T>G, NM_020462.1:c.175T>G, XM_047417408.1:c.310T>G, XM_047417411.1:c.34T>G, XM_047417403.1:c.382T>G, XM_047417407.1:c.382T>G, XM_047417406.1:c.382T>G, XM_047417404.1:c.310T>G, XM_047417412.1:c.310T>G, XM_047417410.1:c.310T>G, NP_001026881.1:p.Ser104Ala, XP_011532899.1:p.Ser128Ala, XP_016865144.1:p.Ser128Ala, XP_047273361.1:p.Ser128Ala, XP_047273364.1:p.Ser104Ala, XP_047273367.1:p.Ser12Ala, XP_047273359.1:p.Ser128Ala, XP_047273363.1:p.Ser128Ala, XP_047273362.1:p.Ser128Ala, XP_047273360.1:p.Ser104Ala, XP_047273368.1:p.Ser104Ala, XP_047273366.1:p.Ser104Ala

Select item 141330475119.

rs1413304751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:172914820 (GRCh38)
5:172341823 (GRCh37)
Canonical SPDI:: NC_000005.10:172914819:G:A
Gene:: ERGIC1 (Varview), MIR10523 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.172914820G>A, NC_000005.9:g.172341823G>A, NM_001031711.3:c.357G>A, NM_001031711.2:c.357G>A, XM_011534597.2:c.429G>A, XM_011534597.1:c.429G>A, XM_017009655.2:c.429G>A, XM_017009655.1:c.429G>A, XM_047417405.1:c.429G>A, NM_020462.1:c.222G>A, XM_047417408.1:c.357G>A, XM_047417411.1:c.81G>A, XM_047417403.1:c.429G>A, XM_047417407.1:c.429G>A, XM_047417406.1:c.429G>A, XM_047417404.1:c.357G>A, XM_047417412.1:c.357G>A, XM_047417410.1:c.357G>A

Select item 141080350720.

rs1410803507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:172935273 (GRCh38)
5:172362276 (GRCh37)
Canonical SPDI:: NC_000005.10:172935272:C:G,NC_000005.10:172935272:C:T
Gene:: ERGIC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.172935273C>G, NC_000005.10:g.172935273C>T, NC_000005.9:g.172362276C>G, NC_000005.9:g.172362276C>T, NM_001031711.3:c.728C>G, NM_001031711.3:c.728C>T, NM_001031711.2:c.728C>G, NM_001031711.2:c.728C>T, XM_011534597.2:c.800C>G, XM_011534597.2:c.800C>T, XM_011534597.1:c.800C>G, XM_011534597.1:c.800C>T, XM_047417411.1:c.452C>G, XM_047417411.1:c.452C>T, NP_001026881.1:p.Thr243Arg, NP_001026881.1:p.Thr243Ile, XP_011532899.1:p.Thr267Arg, XP_011532899.1:p.Thr267Ile, XP_047273367.1:p.Thr151Arg, XP_047273367.1:p.Thr151Ile

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