SNP Links for Protein (Select 40548372) - SNP

Links from Protein

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Select item 14906654131.

rs1490665413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3477712 (GRCh38)
2:3481483 (GRCh37)
Canonical SPDI:: NC_000002.12:3477711:A:G
Gene:: TRAPPC12 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3477712A>G, NC_000002.11:g.3481483A>G, NT_187522.1:g.87182A>G, NM_016030.6:c.1794A>G, NM_016030.5:c.1794A>G, XM_011510350.3:c.1680A>G, XM_011510350.2:c.1680A>G, XM_011510350.1:c.1680A>G, XM_011510355.3:c.849A>G, XM_011510355.2:c.849A>G, XM_011510355.1:c.849A>G, NM_001321102.2:c.1794A>G, NM_001321102.1:c.1794A>G, XM_011510356.2:c.726A>G, XM_011510356.1:c.726A>G, XR_007076381.1:n.4633A>G, XM_047444637.1:c.1680A>G

Select item 14906509932.

rs1490650993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3479439 (GRCh38)
2:3483210 (GRCh37)
Canonical SPDI:: NC_000002.12:3479438:C:T
Gene:: TRAPPC12 (Varview), TRAPPC12-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.3479439C>T, NC_000002.11:g.3483210C>T, NT_187522.1:g.88909C>T, NM_016030.6:c.2186C>T, NM_016030.5:c.2186C>T, XR_426956.4:n.2272C>T, XR_426956.3:n.2721C>T, XR_426956.2:n.2283C>T, XR_426956.1:n.2274C>T, XM_011510356.2:c.1118C>T, XM_011510356.1:c.1118C>T, XM_011510350.3:c.2072C>T, XM_011510350.2:c.2072C>T, XM_011510350.1:c.2072C>T, XM_011510355.3:c.1241C>T, XM_011510355.2:c.1241C>T, XM_011510355.1:c.1241C>T, NM_001321102.2:c.2186C>T, NM_001321102.1:c.2186C>T, NR_046720.1:n.3555G>A, XM_047444637.1:c.2072C>T, NP_057114.5:p.Thr729Ile, XP_011508658.1:p.Thr373Ile, XP_011508652.1:p.Thr691Ile, XP_011508657.1:p.Thr414Ile, NP_001308031.1:p.Thr729Ile, XP_047300593.1:p.Thr691Ile

Select item 14903255343.

rs1490325534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3477783 (GRCh38)
2:3481554 (GRCh37)
Canonical SPDI:: NC_000002.12:3477782:T:C
Gene:: TRAPPC12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3477783T>C, NC_000002.11:g.3481554T>C, NT_187522.1:g.87253T>C, NM_016030.6:c.1865T>C, NM_016030.5:c.1865T>C, XM_011510350.3:c.1751T>C, XM_011510350.2:c.1751T>C, XM_011510350.1:c.1751T>C, XM_011510355.3:c.920T>C, XM_011510355.2:c.920T>C, XM_011510355.1:c.920T>C, NM_001321102.2:c.1865T>C, NM_001321102.1:c.1865T>C, XM_011510356.2:c.797T>C, XM_011510356.1:c.797T>C, XM_047444637.1:c.1751T>C, NP_057114.5:p.Val622Ala, XP_011508652.1:p.Val584Ala, XP_011508657.1:p.Val307Ala, NP_001308031.1:p.Val622Ala, XP_011508658.1:p.Val266Ala, XP_047300593.1:p.Val584Ala

Select item 14871718224.

rs1487171822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:3388118 (GRCh38)
2:3391889 (GRCh37)
Canonical SPDI:: NC_000002.12:3388117:G:A,NC_000002.12:3388117:G:C
Gene:: TRAPPC12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3388118G>A, NC_000002.12:g.3388118G>C, NC_000002.11:g.3391889G>A, NC_000002.11:g.3391889G>C, NM_016030.6:c.495G>A, NM_016030.6:c.495G>C, NM_016030.5:c.495G>A, NM_016030.5:c.495G>C, XR_426956.4:n.682G>A, XR_426956.4:n.682G>C, XR_426956.3:n.1131G>A, XR_426956.3:n.1131G>C, XR_426956.2:n.693G>A, XR_426956.2:n.693G>C, XR_426956.1:n.684G>A, XR_426956.1:n.684G>C, XM_011510352.3:c.495G>A, XM_011510352.3:c.495G>C, XM_011510352.2:c.495G>A, XM_011510352.2:c.495G>C, XM_011510352.1:c.495G>A, XM_011510352.1:c.495G>C, XM_011510354.3:c.495G>A, XM_011510354.3:c.495G>C, XM_011510354.2:c.495G>A, XM_011510354.2:c.495G>C, XM_011510354.1:c.495G>A, XM_011510354.1:c.495G>C, XM_011510353.3:c.495G>A, XM_011510353.3:c.495G>C, XM_011510353.2:c.495G>A, XM_011510353.2:c.495G>C, XM_011510353.1:c.495G>A, XM_011510353.1:c.495G>C, XM_011510350.3:c.495G>A, XM_011510350.3:c.495G>C, XM_011510350.2:c.495G>A, XM_011510350.2:c.495G>C, XM_011510350.1:c.495G>A, XM_011510350.1:c.495G>C, XR_001738761.2:n.682G>A, XR_001738761.2:n.682G>C, XR_001738761.1:n.1131G>A, XR_001738761.1:n.1131G>C, NM_001321102.2:c.495G>A, NM_001321102.2:c.495G>C, NM_001321102.1:c.495G>A, NM_001321102.1:c.495G>C, XR_007076381.1:n.682G>A, XR_007076381.1:n.682G>C, XM_047444638.1:c.495G>A, XM_047444638.1:c.495G>C, XM_047444639.1:c.495G>A, XM_047444639.1:c.495G>C, XM_047444637.1:c.495G>A, XM_047444637.1:c.495G>C, XR_007076382.1:n.682G>A, XR_007076382.1:n.682G>C, NP_057114.5:p.Gln165His, XP_011508654.1:p.Gln165His, XP_011508656.1:p.Gln165His, XP_011508655.1:p.Gln165His, XP_011508652.1:p.Gln165His, NP_001308031.1:p.Gln165His, XP_047300594.1:p.Gln165His, XP_047300595.1:p.Gln165His, XP_047300593.1:p.Gln165His

Select item 14867861365.

rs1486786136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:3387994 (GRCh38)
2:3391765 (GRCh37)
Canonical SPDI:: NC_000002.12:3387993:C:A
Gene:: TRAPPC12 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3387994C>A, NC_000002.11:g.3391765C>A, NM_016030.6:c.371C>A, NM_016030.5:c.371C>A, XR_426956.4:n.558C>A, XR_426956.3:n.1007C>A, XR_426956.2:n.569C>A, XR_426956.1:n.560C>A, XM_011510352.3:c.371C>A, XM_011510352.2:c.371C>A, XM_011510352.1:c.371C>A, XM_011510354.3:c.371C>A, XM_011510354.2:c.371C>A, XM_011510354.1:c.371C>A, XM_011510353.3:c.371C>A, XM_011510353.2:c.371C>A, XM_011510353.1:c.371C>A, XM_011510350.3:c.371C>A, XM_011510350.2:c.371C>A, XM_011510350.1:c.371C>A, XR_001738761.2:n.558C>A, XR_001738761.1:n.1007C>A, NM_001321102.2:c.371C>A, NM_001321102.1:c.371C>A, XR_007076381.1:n.558C>A, XM_047444638.1:c.371C>A, XM_047444639.1:c.371C>A, XM_047444637.1:c.371C>A, XR_007076382.1:n.558C>A, NP_057114.5:p.Ala124Glu, XP_011508654.1:p.Ala124Glu, XP_011508656.1:p.Ala124Glu, XP_011508655.1:p.Ala124Glu, XP_011508652.1:p.Ala124Glu, NP_001308031.1:p.Ala124Glu, XP_047300594.1:p.Ala124Glu, XP_047300595.1:p.Ala124Glu, XP_047300593.1:p.Ala124Glu

Select item 14858689216.

rs1485868921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3401857 (GRCh38)
2:3405628 (GRCh37)
Canonical SPDI:: NC_000002.12:3401856:A:G
Gene:: TRAPPC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3401857A>G, NC_000002.11:g.3405628A>G, NT_187522.1:g.9960A>G, NM_016030.6:c.1128A>G, NM_016030.5:c.1128A>G, XR_426956.4:n.1315A>G, XR_426956.3:n.1764A>G, XR_426956.2:n.1326A>G, XR_426956.1:n.1317A>G, XM_011510355.3:c.183A>G, XM_011510355.2:c.183A>G, XM_011510355.1:c.183A>G, NM_001321102.2:c.1128A>G, NM_001321102.1:c.1128A>G, XM_011510356.2:c.60A>G, XM_011510356.1:c.60A>G, XR_001738761.2:n.1315A>G, XR_001738761.1:n.1764A>G, XM_011510352.3:c.1128A>G, XM_011510352.2:c.1128A>G, XM_011510352.1:c.1128A>G, XM_011510354.3:c.1128A>G, XM_011510354.2:c.1128A>G, XM_011510354.1:c.1128A>G, XM_011510353.3:c.1128A>G, XM_011510353.2:c.1128A>G, XM_011510353.1:c.1128A>G, XM_011510350.3:c.1128A>G, XM_011510350.2:c.1128A>G, XM_011510350.1:c.1128A>G, XR_007076381.1:n.1315A>G, XM_047444638.1:c.1128A>G, XM_047444639.1:c.1128A>G, XM_047444637.1:c.1128A>G, XR_007076382.1:n.1315A>G

Select item 14857344377.

rs1485734437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3387737 (GRCh38)
2:3391508 (GRCh37)
Canonical SPDI:: NC_000002.12:3387736:T:C
Gene:: TRAPPC12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3387737T>C, NC_000002.11:g.3391508T>C, NM_016030.6:c.114T>C, NM_016030.5:c.114T>C, XR_426956.4:n.301T>C, XR_426956.3:n.750T>C, XR_426956.2:n.312T>C, XR_426956.1:n.303T>C, XM_011510352.3:c.114T>C, XM_011510352.2:c.114T>C, XM_011510352.1:c.114T>C, XM_011510354.3:c.114T>C, XM_011510354.2:c.114T>C, XM_011510354.1:c.114T>C, XM_011510353.3:c.114T>C, XM_011510353.2:c.114T>C, XM_011510353.1:c.114T>C, XM_011510350.3:c.114T>C, XM_011510350.2:c.114T>C, XM_011510350.1:c.114T>C, XR_001738761.2:n.301T>C, XR_001738761.1:n.750T>C, NM_001321102.2:c.114T>C, NM_001321102.1:c.114T>C, XR_007076381.1:n.301T>C, XM_047444638.1:c.114T>C, XM_047444639.1:c.114T>C, XM_047444637.1:c.114T>C, XR_007076382.1:n.301T>C

Select item 14847865868.

rs1484786586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:3388569 (GRCh38)
2:3392340 (GRCh37)
Canonical SPDI:: NC_000002.12:3388568:A:C
Gene:: TRAPPC12 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000002.12:g.3388569A>C, NC_000002.11:g.3392340A>C, NM_016030.6:c.946A>C, NM_016030.5:c.946A>C, XR_426956.4:n.1133A>C, XR_426956.3:n.1582A>C, XR_426956.2:n.1144A>C, XR_426956.1:n.1135A>C, XM_011510352.3:c.946A>C, XM_011510352.2:c.946A>C, XM_011510352.1:c.946A>C, XM_011510354.3:c.946A>C, XM_011510354.2:c.946A>C, XM_011510354.1:c.946A>C, XM_011510353.3:c.946A>C, XM_011510353.2:c.946A>C, XM_011510353.1:c.946A>C, XM_011510350.3:c.946A>C, XM_011510350.2:c.946A>C, XM_011510350.1:c.946A>C, XR_001738761.2:n.1133A>C, XR_001738761.1:n.1582A>C, NM_001321102.2:c.946A>C, NM_001321102.1:c.946A>C, XR_007076381.1:n.1133A>C, XM_047444638.1:c.946A>C, XM_047444639.1:c.946A>C, XM_047444637.1:c.946A>C, XR_007076382.1:n.1133A>C, NP_057114.5:p.Thr316Pro, XP_011508654.1:p.Thr316Pro, XP_011508656.1:p.Thr316Pro, XP_011508655.1:p.Thr316Pro, XP_011508652.1:p.Thr316Pro, NP_001308031.1:p.Thr316Pro, XP_047300594.1:p.Thr316Pro, XP_047300595.1:p.Thr316Pro, XP_047300593.1:p.Thr316Pro

Select item 14783425369.

rs1478342536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:3387783 (GRCh38)
2:3391554 (GRCh37)
Canonical SPDI:: NC_000002.12:3387782:G:A,NC_000002.12:3387782:G:C,NC_000002.12:3387782:G:T
Gene:: TRAPPC12 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3387783G>A, NC_000002.12:g.3387783G>C, NC_000002.12:g.3387783G>T, NC_000002.11:g.3391554G>A, NC_000002.11:g.3391554G>C, NC_000002.11:g.3391554G>T, NM_016030.6:c.160G>A, NM_016030.6:c.160G>C, NM_016030.6:c.160G>T, NM_016030.5:c.160G>A, NM_016030.5:c.160G>C, NM_016030.5:c.160G>T, XR_426956.4:n.347G>A, XR_426956.4:n.347G>C, XR_426956.4:n.347G>T, XR_426956.3:n.796G>A, XR_426956.3:n.796G>C, XR_426956.3:n.796G>T, XR_426956.2:n.358G>A, XR_426956.2:n.358G>C, XR_426956.2:n.358G>T, XR_426956.1:n.349G>A, XR_426956.1:n.349G>C, XR_426956.1:n.349G>T, XM_011510352.3:c.160G>A, XM_011510352.3:c.160G>C, XM_011510352.3:c.160G>T, XM_011510352.2:c.160G>A, XM_011510352.2:c.160G>C, XM_011510352.2:c.160G>T, XM_011510352.1:c.160G>A, XM_011510352.1:c.160G>C, XM_011510352.1:c.160G>T, XM_011510354.3:c.160G>A, XM_011510354.3:c.160G>C, XM_011510354.3:c.160G>T, XM_011510354.2:c.160G>A, XM_011510354.2:c.160G>C, XM_011510354.2:c.160G>T, XM_011510354.1:c.160G>A, XM_011510354.1:c.160G>C, XM_011510354.1:c.160G>T, XM_011510353.3:c.160G>A, XM_011510353.3:c.160G>C, XM_011510353.3:c.160G>T, XM_011510353.2:c.160G>A, XM_011510353.2:c.160G>C, XM_011510353.2:c.160G>T, XM_011510353.1:c.160G>A, XM_011510353.1:c.160G>C, XM_011510353.1:c.160G>T, XM_011510350.3:c.160G>A, XM_011510350.3:c.160G>C, XM_011510350.3:c.160G>T, XM_011510350.2:c.160G>A, XM_011510350.2:c.160G>C, XM_011510350.2:c.160G>T, XM_011510350.1:c.160G>A, XM_011510350.1:c.160G>C, XM_011510350.1:c.160G>T, XR_001738761.2:n.347G>A, XR_001738761.2:n.347G>C, XR_001738761.2:n.347G>T, XR_001738761.1:n.796G>A, XR_001738761.1:n.796G>C, XR_001738761.1:n.796G>T, NM_001321102.2:c.160G>A, NM_001321102.2:c.160G>C, NM_001321102.2:c.160G>T, NM_001321102.1:c.160G>A, NM_001321102.1:c.160G>C, NM_001321102.1:c.160G>T, XR_007076381.1:n.347G>A, XR_007076381.1:n.347G>C, XR_007076381.1:n.347G>T, XM_047444638.1:c.160G>A, XM_047444638.1:c.160G>C, XM_047444638.1:c.160G>T, XM_047444639.1:c.160G>A, XM_047444639.1:c.160G>C, XM_047444639.1:c.160G>T, XM_047444637.1:c.160G>A, XM_047444637.1:c.160G>C, XM_047444637.1:c.160G>T, XR_007076382.1:n.347G>A, XR_007076382.1:n.347G>C, XR_007076382.1:n.347G>T, NP_057114.5:p.Gly54Ser, NP_057114.5:p.Gly54Arg, NP_057114.5:p.Gly54Cys, XP_011508654.1:p.Gly54Ser, XP_011508654.1:p.Gly54Arg, XP_011508654.1:p.Gly54Cys, XP_011508656.1:p.Gly54Ser, XP_011508656.1:p.Gly54Arg, XP_011508656.1:p.Gly54Cys, XP_011508655.1:p.Gly54Ser, XP_011508655.1:p.Gly54Arg, XP_011508655.1:p.Gly54Cys, XP_011508652.1:p.Gly54Ser, XP_011508652.1:p.Gly54Arg, XP_011508652.1:p.Gly54Cys, NP_001308031.1:p.Gly54Ser, NP_001308031.1:p.Gly54Arg, NP_001308031.1:p.Gly54Cys, XP_047300594.1:p.Gly54Ser, XP_047300594.1:p.Gly54Arg, XP_047300594.1:p.Gly54Cys, XP_047300595.1:p.Gly54Ser, XP_047300595.1:p.Gly54Arg, XP_047300595.1:p.Gly54Cys, XP_047300593.1:p.Gly54Ser, XP_047300593.1:p.Gly54Arg, XP_047300593.1:p.Gly54Cys

Select item 147771283510.

rs1477712835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3387831 (GRCh38)
2:3391602 (GRCh37)
Canonical SPDI:: NC_000002.12:3387830:G:A
Gene:: TRAPPC12 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.3387831G>A, NC_000002.11:g.3391602G>A, NM_016030.6:c.208G>A, NM_016030.5:c.208G>A, XR_426956.4:n.395G>A, XR_426956.3:n.844G>A, XR_426956.2:n.406G>A, XR_426956.1:n.397G>A, XM_011510352.3:c.208G>A, XM_011510352.2:c.208G>A, XM_011510352.1:c.208G>A, XM_011510354.3:c.208G>A, XM_011510354.2:c.208G>A, XM_011510354.1:c.208G>A, XM_011510353.3:c.208G>A, XM_011510353.2:c.208G>A, XM_011510353.1:c.208G>A, XM_011510350.3:c.208G>A, XM_011510350.2:c.208G>A, XM_011510350.1:c.208G>A, XR_001738761.2:n.395G>A, XR_001738761.1:n.844G>A, NM_001321102.2:c.208G>A, NM_001321102.1:c.208G>A, XR_007076381.1:n.395G>A, XM_047444638.1:c.208G>A, XM_047444639.1:c.208G>A, XM_047444637.1:c.208G>A, XR_007076382.1:n.395G>A, NP_057114.5:p.Val70Ile, XP_011508654.1:p.Val70Ile, XP_011508656.1:p.Val70Ile, XP_011508655.1:p.Val70Ile, XP_011508652.1:p.Val70Ile, NP_001308031.1:p.Val70Ile, XP_047300594.1:p.Val70Ile, XP_047300595.1:p.Val70Ile, XP_047300593.1:p.Val70Ile

Select item 147644325511.

rs1476443255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3421941 (GRCh38)
2:3425712 (GRCh37)
Canonical SPDI:: NC_000002.12:3421940:C:T
Gene:: TRAPPC12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3421941C>T, NC_000002.11:g.3425712C>T, NT_187522.1:g.32001C>T, NM_016030.6:c.1225C>T, NM_016030.5:c.1225C>T, XR_426956.4:n.1412C>T, XR_426956.3:n.1861C>T, XR_426956.2:n.1423C>T, XR_426956.1:n.1414C>T, XM_011510355.3:c.280C>T, XM_011510355.2:c.280C>T, XM_011510355.1:c.280C>T, XR_001738761.2:n.1412C>T, XR_001738761.1:n.1861C>T, XM_011510353.3:c.1225C>T, XM_011510353.2:c.1225C>T, XM_011510353.1:c.1225C>T, NM_001321102.2:c.1225C>T, NM_001321102.1:c.1225C>T, XM_011510356.2:c.157C>T, XM_011510356.1:c.157C>T, XM_047444638.1:c.1225C>T, XR_007076381.1:n.1412C>T, XR_007076382.1:n.1499C>T, XM_011510352.3:c.1225C>T, XM_011510352.2:c.1225C>T, XM_011510352.1:c.1225C>T, XM_011510354.3:c.1225C>T, XM_011510354.2:c.1225C>T, XM_011510354.1:c.1225C>T, NP_057114.5:p.Gln409Ter, XP_011508657.1:p.Gln94Ter, XP_011508655.1:p.Gln409Ter, NP_001308031.1:p.Gln409Ter, XP_011508658.1:p.Gln53Ter, XP_047300594.1:p.Gln409Ter, XP_011508654.1:p.Gln409Ter, XP_011508656.1:p.Gln409Ter

Select item 147641197112.

rs1476411971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3388666 (GRCh38)
2:3392437 (GRCh37)
Canonical SPDI:: NC_000002.12:3388665:T:C
Gene:: TRAPPC12 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3388666T>C, NC_000002.11:g.3392437T>C, NM_016030.6:c.1043T>C, NM_016030.5:c.1043T>C, XR_426956.4:n.1230T>C, XR_426956.3:n.1679T>C, XR_426956.2:n.1241T>C, XR_426956.1:n.1232T>C, XM_011510352.3:c.1043T>C, XM_011510352.2:c.1043T>C, XM_011510352.1:c.1043T>C, XM_011510354.3:c.1043T>C, XM_011510354.2:c.1043T>C, XM_011510354.1:c.1043T>C, XM_011510353.3:c.1043T>C, XM_011510353.2:c.1043T>C, XM_011510353.1:c.1043T>C, XM_011510350.3:c.1043T>C, XM_011510350.2:c.1043T>C, XM_011510350.1:c.1043T>C, XR_001738761.2:n.1230T>C, XR_001738761.1:n.1679T>C, NM_001321102.2:c.1043T>C, NM_001321102.1:c.1043T>C, XR_007076381.1:n.1230T>C, XM_047444638.1:c.1043T>C, XM_047444639.1:c.1043T>C, XM_047444637.1:c.1043T>C, XR_007076382.1:n.1230T>C, NP_057114.5:p.Ile348Thr, XP_011508654.1:p.Ile348Thr, XP_011508656.1:p.Ile348Thr, XP_011508655.1:p.Ile348Thr, XP_011508652.1:p.Ile348Thr, NP_001308031.1:p.Ile348Thr, XP_047300594.1:p.Ile348Thr, XP_047300595.1:p.Ile348Thr, XP_047300593.1:p.Ile348Thr

Select item 147533561713.

rs1475335617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:3388336 (GRCh38)
2:3392107 (GRCh37)
Canonical SPDI:: NC_000002.12:3388335:C:A
Gene:: TRAPPC12 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000076/20 (TOPMED)
A=0.000078/11 (GnomAD)
HGVS:: NC_000002.12:g.3388336C>A, NC_000002.11:g.3392107C>A, NM_016030.6:c.713C>A, NM_016030.5:c.713C>A, XR_426956.4:n.900C>A, XR_426956.3:n.1349C>A, XR_426956.2:n.911C>A, XR_426956.1:n.902C>A, XM_011510352.3:c.713C>A, XM_011510352.2:c.713C>A, XM_011510352.1:c.713C>A, XM_011510354.3:c.713C>A, XM_011510354.2:c.713C>A, XM_011510354.1:c.713C>A, XM_011510353.3:c.713C>A, XM_011510353.2:c.713C>A, XM_011510353.1:c.713C>A, XM_011510350.3:c.713C>A, XM_011510350.2:c.713C>A, XM_011510350.1:c.713C>A, XR_001738761.2:n.900C>A, XR_001738761.1:n.1349C>A, NM_001321102.2:c.713C>A, NM_001321102.1:c.713C>A, XR_007076381.1:n.900C>A, XM_047444638.1:c.713C>A, XM_047444639.1:c.713C>A, XM_047444637.1:c.713C>A, XR_007076382.1:n.900C>A, NP_057114.5:p.Pro238His, XP_011508654.1:p.Pro238His, XP_011508656.1:p.Pro238His, XP_011508655.1:p.Pro238His, XP_011508652.1:p.Pro238His, NP_001308031.1:p.Pro238His, XP_047300594.1:p.Pro238His, XP_047300595.1:p.Pro238His, XP_047300593.1:p.Pro238His

Select item 147474545114.

rs1474745451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:3388013 (GRCh38)
2:3391784 (GRCh37)
Canonical SPDI:: NC_000002.12:3388012:C:G
Gene:: TRAPPC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.3388013C>G, NC_000002.11:g.3391784C>G, NM_016030.6:c.390C>G, NM_016030.5:c.390C>G, XR_426956.4:n.577C>G, XR_426956.3:n.1026C>G, XR_426956.2:n.588C>G, XR_426956.1:n.579C>G, XM_011510352.3:c.390C>G, XM_011510352.2:c.390C>G, XM_011510352.1:c.390C>G, XM_011510354.3:c.390C>G, XM_011510354.2:c.390C>G, XM_011510354.1:c.390C>G, XM_011510353.3:c.390C>G, XM_011510353.2:c.390C>G, XM_011510353.1:c.390C>G, XM_011510350.3:c.390C>G, XM_011510350.2:c.390C>G, XM_011510350.1:c.390C>G, XR_001738761.2:n.577C>G, XR_001738761.1:n.1026C>G, NM_001321102.2:c.390C>G, NM_001321102.1:c.390C>G, XR_007076381.1:n.577C>G, XM_047444638.1:c.390C>G, XM_047444639.1:c.390C>G, XM_047444637.1:c.390C>G, XR_007076382.1:n.577C>G

Select item 147248594315.

rs1472485943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:3479396 (GRCh38)
2:3483167 (GRCh37)
Canonical SPDI:: NC_000002.12:3479395:C:G
Gene:: TRAPPC12 (Varview), TRAPPC12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3479396C>G, NC_000002.11:g.3483167C>G, NT_187522.1:g.88866C>G, NM_016030.6:c.2143C>G, NM_016030.5:c.2143C>G, XR_426956.4:n.2229C>G, XR_426956.3:n.2678C>G, XR_426956.2:n.2240C>G, XR_426956.1:n.2231C>G, XM_011510356.2:c.1075C>G, XM_011510356.1:c.1075C>G, XM_011510350.3:c.2029C>G, XM_011510350.2:c.2029C>G, XM_011510350.1:c.2029C>G, XM_011510355.3:c.1198C>G, XM_011510355.2:c.1198C>G, XM_011510355.1:c.1198C>G, NM_001321102.2:c.2143C>G, NM_001321102.1:c.2143C>G, NR_046720.1:n.3598G>C, XM_047444637.1:c.2029C>G, NP_057114.5:p.Leu715Val, XP_011508658.1:p.Leu359Val, XP_011508652.1:p.Leu677Val, XP_011508657.1:p.Leu400Val, NP_001308031.1:p.Leu715Val, XP_047300593.1:p.Leu677Val

Select item 147203713916.

rs1472037139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:3388652 (GRCh38)
2:3392423 (GRCh37)
Canonical SPDI:: NC_000002.12:3388651:C:G
Gene:: TRAPPC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.3388652C>G, NC_000002.11:g.3392423C>G, NM_016030.6:c.1029C>G, NM_016030.5:c.1029C>G, XR_426956.4:n.1216C>G, XR_426956.3:n.1665C>G, XR_426956.2:n.1227C>G, XR_426956.1:n.1218C>G, XM_011510352.3:c.1029C>G, XM_011510352.2:c.1029C>G, XM_011510352.1:c.1029C>G, XM_011510354.3:c.1029C>G, XM_011510354.2:c.1029C>G, XM_011510354.1:c.1029C>G, XM_011510353.3:c.1029C>G, XM_011510353.2:c.1029C>G, XM_011510353.1:c.1029C>G, XM_011510350.3:c.1029C>G, XM_011510350.2:c.1029C>G, XM_011510350.1:c.1029C>G, XR_001738761.2:n.1216C>G, XR_001738761.1:n.1665C>G, NM_001321102.2:c.1029C>G, NM_001321102.1:c.1029C>G, XR_007076381.1:n.1216C>G, XM_047444638.1:c.1029C>G, XM_047444639.1:c.1029C>G, XM_047444637.1:c.1029C>G, XR_007076382.1:n.1216C>G

Select item 147124611817.

rs1471246118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3388383 (GRCh38)
2:3392154 (GRCh37)
Canonical SPDI:: NC_000002.12:3388382:C:T
Gene:: TRAPPC12 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3388383C>T, NC_000002.11:g.3392154C>T, NM_016030.6:c.760C>T, NM_016030.5:c.760C>T, XR_426956.4:n.947C>T, XR_426956.3:n.1396C>T, XR_426956.2:n.958C>T, XR_426956.1:n.949C>T, XM_011510352.3:c.760C>T, XM_011510352.2:c.760C>T, XM_011510352.1:c.760C>T, XM_011510354.3:c.760C>T, XM_011510354.2:c.760C>T, XM_011510354.1:c.760C>T, XM_011510353.3:c.760C>T, XM_011510353.2:c.760C>T, XM_011510353.1:c.760C>T, XM_011510350.3:c.760C>T, XM_011510350.2:c.760C>T, XM_011510350.1:c.760C>T, XR_001738761.2:n.947C>T, XR_001738761.1:n.1396C>T, NM_001321102.2:c.760C>T, NM_001321102.1:c.760C>T, XR_007076381.1:n.947C>T, XM_047444638.1:c.760C>T, XM_047444639.1:c.760C>T, XM_047444637.1:c.760C>T, XR_007076382.1:n.947C>T, NP_057114.5:p.Pro254Ser, XP_011508654.1:p.Pro254Ser, XP_011508656.1:p.Pro254Ser, XP_011508655.1:p.Pro254Ser, XP_011508652.1:p.Pro254Ser, NP_001308031.1:p.Pro254Ser, XP_047300594.1:p.Pro254Ser, XP_047300595.1:p.Pro254Ser, XP_047300593.1:p.Pro254Ser

Select item 147107733018.

rs1471077330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3388126 (GRCh38)
2:3391897 (GRCh37)
Canonical SPDI:: NC_000002.12:3388125:C:T
Gene:: TRAPPC12 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3388126C>T, NC_000002.11:g.3391897C>T, NM_016030.6:c.503C>T, NM_016030.5:c.503C>T, XR_426956.4:n.690C>T, XR_426956.3:n.1139C>T, XR_426956.2:n.701C>T, XR_426956.1:n.692C>T, XM_011510352.3:c.503C>T, XM_011510352.2:c.503C>T, XM_011510352.1:c.503C>T, XM_011510354.3:c.503C>T, XM_011510354.2:c.503C>T, XM_011510354.1:c.503C>T, XM_011510353.3:c.503C>T, XM_011510353.2:c.503C>T, XM_011510353.1:c.503C>T, XM_011510350.3:c.503C>T, XM_011510350.2:c.503C>T, XM_011510350.1:c.503C>T, XR_001738761.2:n.690C>T, XR_001738761.1:n.1139C>T, NM_001321102.2:c.503C>T, NM_001321102.1:c.503C>T, XR_007076381.1:n.690C>T, XM_047444638.1:c.503C>T, XM_047444639.1:c.503C>T, XM_047444637.1:c.503C>T, XR_007076382.1:n.690C>T, NP_057114.5:p.Pro168Leu, XP_011508654.1:p.Pro168Leu, XP_011508656.1:p.Pro168Leu, XP_011508655.1:p.Pro168Leu, XP_011508652.1:p.Pro168Leu, NP_001308031.1:p.Pro168Leu, XP_047300594.1:p.Pro168Leu, XP_047300595.1:p.Pro168Leu, XP_047300593.1:p.Pro168Leu

Select item 147043434719.

rs1470434347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3479329 (GRCh38)
2:3483100 (GRCh37)
Canonical SPDI:: NC_000002.12:3479328:C:T
Gene:: TRAPPC12 (Varview), TRAPPC12-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3479329C>T, NC_000002.11:g.3483100C>T, NT_187522.1:g.88799C>T, NM_016030.6:c.2076C>T, NM_016030.5:c.2076C>T, XR_426956.4:n.2162C>T, XR_426956.3:n.2611C>T, XR_426956.2:n.2173C>T, XR_426956.1:n.2164C>T, XM_011510356.2:c.1008C>T, XM_011510356.1:c.1008C>T, XM_011510350.3:c.1962C>T, XM_011510350.2:c.1962C>T, XM_011510350.1:c.1962C>T, XM_011510355.3:c.1131C>T, XM_011510355.2:c.1131C>T, XM_011510355.1:c.1131C>T, NM_001321102.2:c.2076C>T, NM_001321102.1:c.2076C>T, NR_046720.1:n.3665G>A, XM_047444637.1:c.1962C>T

Select item 146971345720.

rs1469713457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3388607 (GRCh38)
2:3392378 (GRCh37)
Canonical SPDI:: NC_000002.12:3388606:C:T
Gene:: TRAPPC12 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3388607C>T, NC_000002.11:g.3392378C>T, NM_016030.6:c.984C>T, NM_016030.5:c.984C>T, XR_426956.4:n.1171C>T, XR_426956.3:n.1620C>T, XR_426956.2:n.1182C>T, XR_426956.1:n.1173C>T, XM_011510352.3:c.984C>T, XM_011510352.2:c.984C>T, XM_011510352.1:c.984C>T, XM_011510354.3:c.984C>T, XM_011510354.2:c.984C>T, XM_011510354.1:c.984C>T, XM_011510353.3:c.984C>T, XM_011510353.2:c.984C>T, XM_011510353.1:c.984C>T, XM_011510350.3:c.984C>T, XM_011510350.2:c.984C>T, XM_011510350.1:c.984C>T, XR_001738761.2:n.1171C>T, XR_001738761.1:n.1620C>T, NM_001321102.2:c.984C>T, NM_001321102.1:c.984C>T, XR_007076381.1:n.1171C>T, XM_047444638.1:c.984C>T, XM_047444639.1:c.984C>T, XM_047444637.1:c.984C>T, XR_007076382.1:n.1171C>T

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