SNP Links for Protein (Select 4503769) - SNP

Links from Protein

Items: 1 to 20 of 123

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Select item 14850792821.

rs1485079282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53507086 (GRCh38)
12:53900870 (GRCh37)
Canonical SPDI:: NC_000012.12:53507085:C:T
Gene:: NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53507086C>T, NC_000012.11:g.53900870C>T, NM_003717.4:c.159G>A, NM_003717.3:c.159G>A, NM_003717.2:c.159G>A, NM_001320296.2:c.168G>A, NM_001320296.1:c.168G>A, NR_159377.1:n.1950G>A, NM_001366559.1:c.1291G>A, NM_001366560.1:c.1291G>A, NP_001353488.1:p.Ala431Thr, NP_001353489.1:p.Ala431Thr

Select item 14765235992.

rs1476523599 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCA>- [Show Flanks]
Chromosome:: 12:53507444 (GRCh38)
12:53901228 (GRCh37)
Canonical SPDI:: NC_000012.12:53507441:CACCA:CA
Gene:: NPFF (Varview), ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,inframe_deletion,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53507444_53507446del, NC_000012.11:g.53901228_53901230del, NM_003717.4:c.31_33del, NM_003717.3:c.31_33del, NM_003717.2:c.31_33del, NM_001320296.2:c.-191_-189del, NM_001320296.1:c.-191_-189del, NP_003708.1:p.Val11del

Select item 14651258653.

rs1465125865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53507027 (GRCh38)
12:53900811 (GRCh37)
Canonical SPDI:: NC_000012.12:53507026:G:C
Gene:: NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53507027G>C, NC_000012.11:g.53900811G>C, NM_003717.4:c.218C>G, NM_003717.3:c.218C>G, NM_003717.2:c.218C>G, NM_001320296.2:c.227C>G, NM_001320296.1:c.227C>G, NR_159377.1:n.2009C>G, NM_001366559.1:c.1350C>G, NM_001366560.1:c.1350C>G, NP_003708.1:p.Pro73Arg, NP_001307225.1:p.Pro76Arg

Select item 14393919254.

rs1439391925 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:53506881 (GRCh38)
12:53900666 (GRCh37)
Canonical SPDI:: NC_000012.12:53506881:TTT:TTTT
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.53506884dup, NC_000012.11:g.53900668dup, NM_003717.4:c.236dup, NM_003717.3:c.236dup, NM_003717.2:c.236dup, NM_001320296.2:c.245dup, NM_001320296.1:c.245dup, NR_159377.1:n.2027dup, NM_001366559.1:c.1368dup, NM_001366560.1:c.1359dup, NP_003708.1:p.Asn79fs, NP_001307225.1:p.Asn82fs, NP_001353488.1:p.Tyr457fs, NP_001353489.1:p.Tyr454fs

Select item 14377346645.

rs1437734664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53507079 (GRCh38)
12:53900863 (GRCh37)
Canonical SPDI:: NC_000012.12:53507078:G:A
Gene:: NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53507079G>A, NC_000012.11:g.53900863G>A, NM_003717.4:c.166C>T, NM_003717.3:c.166C>T, NM_003717.2:c.166C>T, NM_001320296.2:c.175C>T, NM_001320296.1:c.175C>T, NR_159377.1:n.1957C>T, NM_001366559.1:c.1298C>T, NM_001366560.1:c.1298C>T, NP_001353488.1:p.Pro433Leu, NP_001353489.1:p.Pro433Leu

Select item 14327276176.

rs1432727617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53506799 (GRCh38)
12:53900583 (GRCh37)
Canonical SPDI:: NC_000012.12:53506798:G:A
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53506799G>A, NC_000012.11:g.53900583G>A, NM_003717.4:c.319C>T, NM_003717.3:c.319C>T, NM_003717.2:c.319C>T, NM_001320296.2:c.328C>T, NM_001320296.1:c.328C>T, NR_159377.1:n.2110C>T, NM_001366559.1:c.*59C>T, NM_001366560.1:c.*59C>T, NP_003708.1:p.Pro107Ser, NP_001307225.1:p.Pro110Ser

Select item 14311108337.

rs1431110833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53506782 (GRCh38)
12:53900566 (GRCh37)
Canonical SPDI:: NC_000012.12:53506781:C:T
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53506782C>T, NC_000012.11:g.53900566C>T, NM_003717.4:c.336G>A, NM_003717.3:c.336G>A, NM_003717.2:c.336G>A, NM_001320296.2:c.345G>A, NM_001320296.1:c.345G>A, NR_159377.1:n.2127G>A, NM_001366559.1:c.*76G>A, NM_001366560.1:c.*76G>A

Select item 14278264598.

rs1427826459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:53507456 (GRCh38)
12:53901240 (GRCh37)
Canonical SPDI:: NC_000012.12:53507455:C:A,NC_000012.12:53507455:C:T
Gene:: NPFF (Varview), ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000052/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53507456C>A, NC_000012.12:g.53507456C>T, NC_000012.11:g.53901240C>A, NC_000012.11:g.53901240C>T, NM_003717.4:c.19G>T, NM_003717.4:c.19G>A, NM_003717.3:c.19G>T, NM_003717.3:c.19G>A, NM_003717.2:c.19G>T, NM_003717.2:c.19G>A, NM_001320296.2:c.-203G>T, NM_001320296.2:c.-203G>A, NM_001320296.1:c.-203G>T, NM_001320296.1:c.-203G>A, NP_003708.1:p.Ala7Ser, NP_003708.1:p.Ala7Thr

Select item 14265230009.

rs1426523000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53506830 (GRCh38)
12:53900614 (GRCh37)
Canonical SPDI:: NC_000012.12:53506829:C:T
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53506830C>T, NC_000012.11:g.53900614C>T, NM_003717.4:c.288G>A, NM_003717.3:c.288G>A, NM_003717.2:c.288G>A, NM_001320296.2:c.297G>A, NM_001320296.1:c.297G>A, NR_159377.1:n.2079G>A, NM_001366559.1:c.*28G>A, NM_001366560.1:c.*28G>A

Select item 142105916410.

rs1421059164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53506805 (GRCh38)
12:53900589 (GRCh37)
Canonical SPDI:: NC_000012.12:53506804:C:T
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53506805C>T, NC_000012.11:g.53900589C>T, NM_003717.4:c.313G>A, NM_003717.3:c.313G>A, NM_003717.2:c.313G>A, NM_001320296.2:c.322G>A, NM_001320296.1:c.322G>A, NR_159377.1:n.2104G>A, NM_001366559.1:c.*53G>A, NM_001366560.1:c.*53G>A, NP_003708.1:p.Ala105Thr, NP_001307225.1:p.Ala108Thr

Select item 141547508411.

rs1415475084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53506795 (GRCh38)
12:53900579 (GRCh37)
Canonical SPDI:: NC_000012.12:53506794:T:C
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53506795T>C, NC_000012.11:g.53900579T>C, NM_003717.4:c.323A>G, NM_003717.3:c.323A>G, NM_003717.2:c.323A>G, NM_001320296.2:c.332A>G, NM_001320296.1:c.332A>G, NR_159377.1:n.2114A>G, NM_001366559.1:c.*63A>G, NM_001366560.1:c.*63A>G, NP_003708.1:p.Gln108Arg, NP_001307225.1:p.Gln111Arg

Select item 141038968612.

rs1410389686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53507386 (GRCh38)
12:53901170 (GRCh37)
Canonical SPDI:: NC_000012.12:53507385:T:C
Gene:: NPFF (Varview), ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53507386T>C, NC_000012.11:g.53901170T>C, NM_003717.4:c.89A>G, NM_003717.3:c.89A>G, NM_003717.2:c.89A>G, NM_001320296.2:c.-133A>G, NM_001320296.1:c.-133A>G, NP_003708.1:p.Asp30Gly

Select item 140554198613.

rs1405541986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:53506879 (GRCh38)
12:53900663 (GRCh37)
Canonical SPDI:: NC_000012.12:53506878:G:A,NC_000012.12:53506878:G:T
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,stop_gained,500B_downstream_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.53506879G>A, NC_000012.12:g.53506879G>T, NC_000012.11:g.53900663G>A, NC_000012.11:g.53900663G>T, NM_003717.4:c.239C>T, NM_003717.4:c.239C>A, NM_003717.3:c.239C>T, NM_003717.3:c.239C>A, NM_003717.2:c.239C>T, NM_003717.2:c.239C>A, NM_001320296.2:c.248C>T, NM_001320296.2:c.248C>A, NM_001320296.1:c.248C>T, NM_001320296.1:c.248C>A, NR_159377.1:n.2030C>T, NR_159377.1:n.2030C>A, NM_001366559.1:c.1371C>T, NM_001366559.1:c.1371C>A, NM_001366560.1:c.1362C>T, NM_001366560.1:c.1362C>A, NP_003708.1:p.Thr80Ile, NP_003708.1:p.Thr80Asn, NP_001307225.1:p.Thr83Ile, NP_001307225.1:p.Thr83Asn, NP_001353488.1:p.Tyr457Ter, NP_001353489.1:p.Tyr454Ter

Select item 139351944714.

rs1393519447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53507130 (GRCh38)
12:53900914 (GRCh37)
Canonical SPDI:: NC_000012.12:53507129:C:T
Gene:: NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53507130C>T, NC_000012.11:g.53900914C>T, NM_003717.4:c.115G>A, NM_003717.3:c.115G>A, NM_003717.2:c.115G>A, NM_001320296.2:c.124G>A, NM_001320296.1:c.124G>A, NR_159377.1:n.1906G>A, NM_001366559.1:c.1247G>A, NM_001366560.1:c.1247G>A, NP_003708.1:p.Glu39Lys, NP_001307225.1:p.Glu42Lys, NP_001353488.1:p.Arg416Gln, NP_001353489.1:p.Arg416Gln

Select item 137860722115.

rs1378607221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53507112 (GRCh38)
12:53900896 (GRCh37)
Canonical SPDI:: NC_000012.12:53507111:C:T
Gene:: NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53507112C>T, NC_000012.11:g.53900896C>T, NM_003717.4:c.133G>A, NM_003717.3:c.133G>A, NM_003717.2:c.133G>A, NM_001320296.2:c.142G>A, NM_001320296.1:c.142G>A, NR_159377.1:n.1924G>A, NM_001366559.1:c.1265G>A, NM_001366560.1:c.1265G>A, NP_003708.1:p.Asp45Asn, NP_001307225.1:p.Asp48Asn, NP_001353488.1:p.Gly422Glu, NP_001353489.1:p.Gly422Glu

Select item 136927176116.

rs1369271761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53506822 (GRCh38)
12:53900606 (GRCh37)
Canonical SPDI:: NC_000012.12:53506821:G:A
Gene:: TARBP2 (Varview), NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53506822G>A, NC_000012.11:g.53900606G>A, NM_003717.4:c.296C>T, NM_003717.3:c.296C>T, NM_003717.2:c.296C>T, NM_001320296.2:c.305C>T, NM_001320296.1:c.305C>T, NR_159377.1:n.2087C>T, NM_001366559.1:c.*36C>T, NM_001366560.1:c.*36C>T, NP_003708.1:p.Ser99Phe, NP_001307225.1:p.Ser102Phe

Select item 136307287917.

rs1363072879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53507408 (GRCh38)
12:53901192 (GRCh37)
Canonical SPDI:: NC_000012.12:53507407:C:T
Gene:: NPFF (Varview), ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,500B_downstream_variant
HGVS:: NC_000012.12:g.53507408C>T, NC_000012.11:g.53901192C>T, NM_003717.4:c.67G>A, NM_003717.3:c.67G>A, NM_003717.2:c.67G>A, NM_001320296.2:c.-155G>A, NM_001320296.1:c.-155G>A, NP_003708.1:p.Gly23Arg

Select item 135686531618.

rs1356865316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53507401 (GRCh38)
12:53901185 (GRCh37)
Canonical SPDI:: NC_000012.12:53507400:C:T
Gene:: NPFF (Varview), ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53507401C>T, NC_000012.11:g.53901185C>T, NM_003717.4:c.74G>A, NM_003717.3:c.74G>A, NM_003717.2:c.74G>A, NM_001320296.2:c.-148G>A, NM_001320296.1:c.-148G>A, NP_003708.1:p.Gly25Glu

Select item 135263619119.

rs1352636191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53507393 (GRCh38)
12:53901177 (GRCh37)
Canonical SPDI:: NC_000012.12:53507392:G:A
Gene:: NPFF (Varview), ATF7 (Varview), ATF7-NPFF (Varview)
Functional Consequence:: stop_gained,intron_variant,downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53507393G>A, NC_000012.11:g.53901177G>A, NM_003717.4:c.82C>T, NM_003717.3:c.82C>T, NM_003717.2:c.82C>T, NM_001320296.2:c.-140C>T, NM_001320296.1:c.-140C>T, NP_003708.1:p.Gln28Ter

Select item 132797854720.

rs1327978547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53507063 (GRCh38)
12:53900847 (GRCh37)
Canonical SPDI:: NC_000012.12:53507062:T:C
Gene:: NPFF (Varview), ATF7-NPFF (Varview)
Functional Consequence:: synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53507063T>C, NC_000012.11:g.53900847T>C, NM_003717.4:c.182A>G, NM_003717.3:c.182A>G, NM_003717.2:c.182A>G, NM_001320296.2:c.191A>G, NM_001320296.1:c.191A>G, NR_159377.1:n.1973A>G, NM_001366559.1:c.1314A>G, NM_001366560.1:c.1314A>G, NP_003708.1:p.Glu61Gly, NP_001307225.1:p.Glu64Gly

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