SNP Links for Protein (Select 525313545) - SNP

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:159036109 (GRCh38)
6:159457141 (GRCh37)
Canonical SPDI:: NC_000006.12:159036108:T:G
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.159036109T>G, NC_000006.11:g.159457141T>G, NG_011524.1:g.14044A>C, NM_054114.5:c.1914A>C, NM_054114.4:c.1914A>C, NM_152133.3:c.1380A>C, NM_152133.2:c.1380A>C, NM_001278733.2:c.1725A>C, NM_001278733.1:c.1725A>C

Select item 14836935417.

rs1483693541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159036110 (GRCh38)
6:159457142 (GRCh37)
Canonical SPDI:: NC_000006.12:159036109:G:A
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159036110G>A, NC_000006.11:g.159457142G>A, NG_011524.1:g.14043C>T, NM_054114.5:c.1913C>T, NM_054114.4:c.1913C>T, NM_152133.3:c.1379C>T, NM_152133.2:c.1379C>T, NM_001278733.2:c.1724C>T, NM_001278733.1:c.1724C>T, NP_473455.2:p.Pro638Leu, NP_687034.1:p.Pro460Leu, NP_001265662.1:p.Pro575Leu

Select item 14809230098.

rs1480923009 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCGG [Show Flanks]
Chromosome:: 6:159035926 (GRCh38)
6:159456959 (GRCh37)
Canonical SPDI:: NC_000006.12:159035926:TCGG:TCGGTCGG
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCGGTCGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.159035927_159035930dup, NC_000006.11:g.159456959_159456962dup, NG_011524.1:g.14223_14226dup, NM_054114.5:c.2093_2096dup, NM_054114.4:c.2093_2096dup, NM_152133.3:c.1559_1562dup, NM_152133.2:c.1559_1562dup, NM_001278733.2:c.1904_1907dup, NM_001278733.1:c.1904_1907dup, NP_473455.2:p.Glu699fs, NP_687034.1:p.Glu521fs, NP_001265662.1:p.Glu636fs

Select item 14791734299.

rs1479173429 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGCCTCTCC>- [Show Flanks]
Chromosome:: 6:159036253 (GRCh38)
6:159457285 (GRCh37)
Canonical SPDI:: NC_000006.12:159036249:TCCAGGCCTCTCC:TCC
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159036253_159036262del, NC_000006.11:g.159457285_159457294del, NG_011524.1:g.13894_13903del, NM_054114.5:c.1764_1773del, NM_054114.4:c.1764_1773del, NM_152133.3:c.1230_1239del, NM_152133.2:c.1230_1239del, NM_001278733.2:c.1575_1584del, NM_001278733.1:c.1575_1584del, NP_473455.2:p.Arg589fs, NP_687034.1:p.Arg411fs, NP_001265662.1:p.Arg526fs

Select item 147838154510.

rs1478381545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:159036310 (GRCh38)
6:159457342 (GRCh37)
Canonical SPDI:: NC_000006.12:159036309:C:G
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159036310C>G, NC_000006.11:g.159457342C>G, NG_011524.1:g.13843G>C, NM_054114.5:c.1713G>C, NM_054114.4:c.1713G>C, NM_152133.3:c.1179G>C, NM_152133.2:c.1179G>C, NM_001278733.2:c.1524G>C, NM_001278733.1:c.1524G>C

Select item 147674745911.

rs1476747459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:159036032 (GRCh38)
6:159457064 (GRCh37)
Canonical SPDI:: NC_000006.12:159036031:G:C
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.159036032G>C, NC_000006.11:g.159457064G>C, NG_011524.1:g.14121C>G, NM_054114.5:c.1991C>G, NM_054114.4:c.1991C>G, NM_152133.3:c.1457C>G, NM_152133.2:c.1457C>G, NM_001278733.2:c.1802C>G, NM_001278733.1:c.1802C>G, NP_473455.2:p.Pro664Arg, NP_687034.1:p.Pro486Arg, NP_001265662.1:p.Pro601Arg

Select item 147585529212.

rs1475855292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:159036333 (GRCh38)
6:159457365 (GRCh37)
Canonical SPDI:: NC_000006.12:159036332:G:T
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159036333G>T, NC_000006.11:g.159457365G>T, NG_011524.1:g.13820C>A, NM_054114.5:c.1690C>A, NM_054114.4:c.1690C>A, NM_152133.3:c.1156C>A, NM_152133.2:c.1156C>A, NM_001278733.2:c.1501C>A, NM_001278733.1:c.1501C>A, NP_473455.2:p.Gln564Lys, NP_687034.1:p.Gln386Lys, NP_001265662.1:p.Gln501Lys

Select item 147386021013.

rs1473860210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159036629 (GRCh38)
6:159457661 (GRCh37)
Canonical SPDI:: NC_000006.12:159036628:A:G
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000006.12:g.159036629A>G, NC_000006.11:g.159457661A>G, NG_011524.1:g.13524T>C, NM_054114.5:c.1394T>C, NM_054114.4:c.1394T>C, NM_152133.3:c.860T>C, NM_152133.2:c.860T>C, NM_001278733.2:c.1205T>C, NM_001278733.1:c.1205T>C, NP_473455.2:p.Leu465Pro, NP_687034.1:p.Leu287Pro, NP_001265662.1:p.Leu402Pro

Select item 147226592214.

rs1472265922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159036773 (GRCh38)
6:159457805 (GRCh37)
Canonical SPDI:: NC_000006.12:159036772:T:C
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159036773T>C, NC_000006.11:g.159457805T>C, NG_011524.1:g.13380A>G, NM_054114.5:c.1250A>G, NM_054114.4:c.1250A>G, NM_152133.3:c.716A>G, NM_152133.2:c.716A>G, NM_001278733.2:c.1061A>G, NM_001278733.1:c.1061A>G, NP_473455.2:p.Glu417Gly, NP_687034.1:p.Glu239Gly, NP_001265662.1:p.Glu354Gly

Select item 147078704615.

rs1470787046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:159036907 (GRCh38)
6:159457939 (GRCh37)
Canonical SPDI:: NC_000006.12:159036906:G:A,NC_000006.12:159036906:G:C
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159036907G>A, NC_000006.12:g.159036907G>C, NC_000006.11:g.159457939G>A, NC_000006.11:g.159457939G>C, NG_011524.1:g.13246C>T, NG_011524.1:g.13246C>G, NM_054114.5:c.1116C>T, NM_054114.5:c.1116C>G, NM_054114.4:c.1116C>T, NM_054114.4:c.1116C>G, NM_152133.3:c.582C>T, NM_152133.3:c.582C>G, NM_152133.2:c.582C>T, NM_152133.2:c.582C>G, NM_001278733.2:c.927C>T, NM_001278733.2:c.927C>G, NM_001278733.1:c.927C>T, NM_001278733.1:c.927C>G

Select item 146637922116.

rs1466379221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:159036527 (GRCh38)
6:159457559 (GRCh37)
Canonical SPDI:: NC_000006.12:159036526:T:A,NC_000006.12:159036526:T:C
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159036527T>A, NC_000006.12:g.159036527T>C, NC_000006.11:g.159457559T>A, NC_000006.11:g.159457559T>C, NG_011524.1:g.13626A>T, NG_011524.1:g.13626A>G, NM_054114.5:c.1496A>T, NM_054114.5:c.1496A>G, NM_054114.4:c.1496A>T, NM_054114.4:c.1496A>G, NM_152133.3:c.962A>T, NM_152133.3:c.962A>G, NM_152133.2:c.962A>T, NM_152133.2:c.962A>G, NM_001278733.2:c.1307A>T, NM_001278733.2:c.1307A>G, NM_001278733.1:c.1307A>T, NM_001278733.1:c.1307A>G, NP_473455.2:p.Lys499Met, NP_473455.2:p.Lys499Arg, NP_687034.1:p.Lys321Met, NP_687034.1:p.Lys321Arg, NP_001265662.1:p.Lys436Met, NP_001265662.1:p.Lys436Arg

Select item 146630068217.

rs1466300682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159035838 (GRCh38)
6:159456870 (GRCh37)
Canonical SPDI:: NC_000006.12:159035837:A:G
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159035838A>G, NC_000006.11:g.159456870A>G, NG_011524.1:g.14315T>C, NM_054114.5:c.2185T>C, NM_054114.4:c.2185T>C, NM_152133.3:c.1651T>C, NM_152133.2:c.1651T>C, NM_001278733.2:c.1996T>C, NM_001278733.1:c.1996T>C, NP_473455.2:p.Ser729Pro, NP_687034.1:p.Ser551Pro, NP_001265662.1:p.Ser666Pro

Select item 146581354818.

rs1465813548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159036258 (GRCh38)
6:159457290 (GRCh37)
Canonical SPDI:: NC_000006.12:159036257:T:C
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159036258T>C, NC_000006.11:g.159457290T>C, NG_011524.1:g.13895A>G, NM_054114.5:c.1765A>G, NM_054114.4:c.1765A>G, NM_152133.3:c.1231A>G, NM_152133.2:c.1231A>G, NM_001278733.2:c.1576A>G, NM_001278733.1:c.1576A>G, NP_473455.2:p.Arg589Gly, NP_687034.1:p.Arg411Gly, NP_001265662.1:p.Arg526Gly

Select item 146463637119.

rs1464636371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159038226 (GRCh38)
6:159459258 (GRCh37)
Canonical SPDI:: NC_000006.12:159038225:C:T
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159038226C>T, NC_000006.11:g.159459258C>T, NG_011524.1:g.11927G>A, NM_054114.5:c.786G>A, NM_054114.4:c.786G>A, NM_152133.3:c.252G>A, NM_152133.2:c.252G>A, NM_001278733.2:c.597G>A, NM_001278733.1:c.597G>A

Select item 146362149820.

rs1463621498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159036645 (GRCh38)
6:159457677 (GRCh37)
Canonical SPDI:: NC_000006.12:159036644:A:G
Gene:: TAGAP (Varview), TAGAP-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159036645A>G, NC_000006.11:g.159457677A>G, NG_011524.1:g.13508T>C, NM_054114.5:c.1378T>C, NM_054114.4:c.1378T>C, NM_152133.3:c.844T>C, NM_152133.2:c.844T>C, NM_001278733.2:c.1189T>C, NM_001278733.1:c.1189T>C, NP_473455.2:p.Phe460Leu, NP_687034.1:p.Phe282Leu, NP_001265662.1:p.Phe397Leu

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