SNP Links for Protein (Select 122937486) - SNP

Links from Protein

Items: 1 to 20 of 231

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Select item 14901420401.

rs1490142040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:3494842 (GRCh38)
16:3544842 (GRCh37)
Canonical SPDI:: NC_000016.10:3494841:G:C,NC_000016.10:3494841:G:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3494842G>C, NC_000016.10:g.3494842G>T, NC_000016.9:g.3544842G>C, NC_000016.9:g.3544842G>T, NM_001080524.2:c.82C>G, NM_001080524.2:c.82C>A, NM_001080524.1:c.82C>G, NM_001080524.1:c.82C>A, NM_001353385.2:c.-180C>G, NM_001353385.2:c.-180C>A, NM_001353385.1:c.-180C>G, NM_001353385.1:c.-180C>A, NM_001353382.1:c.61C>G, NM_001353382.1:c.61C>A, NM_001353383.1:c.-180C>G, NM_001353383.1:c.-180C>A, NM_001353384.1:c.-180C>G, NM_001353384.1:c.-180C>A, XM_024450393.1:c.-180C>G, XM_024450393.1:c.-180C>A, NP_001073993.1:p.Pro28Ala, NP_001073993.1:p.Pro28Thr, NP_001340311.1:p.Pro21Ala, NP_001340311.1:p.Pro21Thr

Select item 14900918972.

rs1490091897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3493878 (GRCh38)
16:3543878 (GRCh37)
Canonical SPDI:: NC_000016.10:3493877:C:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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_000016.10:g.3493878C>T, NC_000016.9:g.3543878C>T, NM_001080524.2:c.510G>A, NM_001080524.1:c.510G>A, NM_001353385.2:c.249G>A, NM_001353385.1:c.249G>A, NM_001353382.1:c.489G>A, NM_001353383.1:c.249G>A, NM_001353384.1:c.249G>A, XM_024450393.1:c.249G>A

Select item 14840003143.

rs1484000314 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 16:3494789 (GRCh38)
16:3544789 (GRCh37)
Canonical SPDI:: NC_000016.10:3494788:C:
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.3494789del, NC_000016.9:g.3544789del, NM_001080524.2:c.135del, NM_001080524.1:c.135del, NM_001353385.2:c.-127del, NM_001353385.1:c.-127del, NM_001353382.1:c.114del, NM_001353383.1:c.-127del, NM_001353384.1:c.-127del, XM_024450393.1:c.-127del, NP_001073993.1:p.Gln45fs, NP_001340311.1:p.Gln38fs

Select item 14834055654.

rs1483405565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3494694 (GRCh38)
16:3544694 (GRCh37)
Canonical SPDI:: NC_000016.10:3494693:C:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.3494694C>T, NC_000016.9:g.3544694C>T, NM_001080524.2:c.230G>A, NM_001080524.1:c.230G>A, NM_001353385.2:c.-32G>A, NM_001353385.1:c.-32G>A, NM_001353382.1:c.209G>A, NM_001353383.1:c.-32G>A, NM_001353384.1:c.-32G>A, XM_024450393.1:c.-32G>A, NP_001073993.1:p.Gly77Asp, NP_001340311.1:p.Gly70Asp

Select item 14816039035.

rs1481603903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3494549 (GRCh38)
16:3544549 (GRCh37)
Canonical SPDI:: NC_000016.10:3494548:C:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3494549C>T, NC_000016.9:g.3544549C>T, NM_001080524.2:c.375G>A, NM_001080524.1:c.375G>A, NM_001353385.2:c.114G>A, NM_001353385.1:c.114G>A, NM_001353382.1:c.354G>A, NM_001353383.1:c.114G>A, NM_001353384.1:c.114G>A, XM_024450393.1:c.114G>A

Select item 14814466726.

rs1481446672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:3495395 (GRCh38)
16:3545395 (GRCh37)
Canonical SPDI:: NC_000016.10:3495394:A:C
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.3495395A>C, NC_000016.9:g.3545395A>C, NM_001080524.2:c.27T>G, NM_001080524.1:c.27T>G

Select item 14811522697.

rs1481152269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:3494684 (GRCh38)
16:3544684 (GRCh37)
Canonical SPDI:: NC_000016.10:3494683:C:G,NC_000016.10:3494683:C:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.3494684C>G, NC_000016.10:g.3494684C>T, NC_000016.9:g.3544684C>G, NC_000016.9:g.3544684C>T, NM_001080524.2:c.240G>C, NM_001080524.2:c.240G>A, NM_001080524.1:c.240G>C, NM_001080524.1:c.240G>A, NM_001353385.2:c.-22G>C, NM_001353385.2:c.-22G>A, NM_001353385.1:c.-22G>C, NM_001353385.1:c.-22G>A, NM_001353382.1:c.219G>C, NM_001353382.1:c.219G>A, NM_001353383.1:c.-22G>C, NM_001353383.1:c.-22G>A, NM_001353384.1:c.-22G>C, NM_001353384.1:c.-22G>A, XM_024450393.1:c.-22G>C, XM_024450393.1:c.-22G>A, NP_001073993.1:p.Glu80Asp, NP_001340311.1:p.Glu73Asp

Select item 14799709058.

rs1479970905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3494806 (GRCh38)
16:3544806 (GRCh37)
Canonical SPDI:: NC_000016.10:3494805:C:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.3494806C>T, NC_000016.9:g.3544806C>T, NM_001080524.2:c.118G>A, NM_001080524.1:c.118G>A, NM_001353385.2:c.-144G>A, NM_001353385.1:c.-144G>A, NM_001353382.1:c.97G>A, NM_001353383.1:c.-144G>A, NM_001353384.1:c.-144G>A, XM_024450393.1:c.-144G>A, NP_001073993.1:p.Gly40Arg, NP_001340311.1:p.Gly33Arg

Select item 14794455749.

rs1479445574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3494589 (GRCh38)
16:3544589 (GRCh37)
Canonical SPDI:: NC_000016.10:3494588:G:A
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3494589G>A, NC_000016.9:g.3544589G>A, NM_001080524.2:c.335C>T, NM_001080524.1:c.335C>T, NM_001353385.2:c.74C>T, NM_001353385.1:c.74C>T, NM_001353382.1:c.314C>T, NM_001353383.1:c.74C>T, NM_001353384.1:c.74C>T, XM_024450393.1:c.74C>T, NP_001073993.1:p.Pro112Leu, NP_001340314.1:p.Pro25Leu, NP_001340311.1:p.Pro105Leu, NP_001340312.1:p.Pro25Leu, NP_001340313.1:p.Pro25Leu, XP_024306161.1:p.Pro25Leu

Select item 147914868810.

rs1479148688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3495382 (GRCh38)
16:3545382 (GRCh37)
Canonical SPDI:: NC_000016.10:3495381:T:C
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3495382T>C, NC_000016.9:g.3545382T>C, NM_001080524.2:c.40A>G, NM_001080524.1:c.40A>G, NP_001073993.1:p.Arg14Gly

Select item 147147678711.

rs1471476787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:3493839 (GRCh38)
16:3543839 (GRCh37)
Canonical SPDI:: NC_000016.10:3493838:C:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: upstream_transcript_variant,terminator_codon_variant,synonymous_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.3493839C>T, NC_000016.9:g.3543839C>T, NM_001080524.2:c.549G>A, NM_001080524.1:c.549G>A, NM_001353385.2:c.288G>A, NM_001353385.1:c.288G>A, NM_001353382.1:c.528G>A, NM_001353383.1:c.288G>A, NM_001353384.1:c.288G>A, XM_024450393.1:c.288G>A

Select item 146229856312.

rs1462298563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:3494710 (GRCh38)
16:3544710 (GRCh37)
Canonical SPDI:: NC_000016.10:3494709:G:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000016.10:g.3494710G>T, NC_000016.9:g.3544710G>T, NM_001080524.2:c.214C>A, NM_001080524.1:c.214C>A, NM_001353385.2:c.-48C>A, NM_001353385.1:c.-48C>A, NM_001353382.1:c.193C>A, NM_001353383.1:c.-48C>A, NM_001353384.1:c.-48C>A, XM_024450393.1:c.-48C>A, NP_001073993.1:p.His72Asn, NP_001340311.1:p.His65Asn

Select item 146163705413.

rs1461637054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:3493981 (GRCh38)
16:3543981 (GRCh37)
Canonical SPDI:: NC_000016.10:3493980:C:A
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3493981C>A, NC_000016.9:g.3543981C>A, NM_001080524.2:c.407G>T, NM_001080524.1:c.407G>T, NM_001353385.2:c.146G>T, NM_001353385.1:c.146G>T, NM_001353382.1:c.386G>T, NM_001353383.1:c.146G>T, NM_001353384.1:c.146G>T, XM_024450393.1:c.146G>T, NP_001073993.1:p.Ser136Ile, NP_001340314.1:p.Ser49Ile, NP_001340311.1:p.Ser129Ile, NP_001340312.1:p.Ser49Ile, NP_001340313.1:p.Ser49Ile, XP_024306161.1:p.Ser49Ile

Select item 146120949414.

rs1461209494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3494732 (GRCh38)
16:3544732 (GRCh37)
Canonical SPDI:: NC_000016.10:3494731:G:A
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.3494732G>A, NC_000016.9:g.3544732G>A, NM_001080524.2:c.192C>T, NM_001080524.1:c.192C>T, NM_001353385.2:c.-70C>T, NM_001353385.1:c.-70C>T, NM_001353382.1:c.171C>T, NM_001353383.1:c.-70C>T, NM_001353384.1:c.-70C>T, XM_024450393.1:c.-70C>T

Select item 144537585815.

rs1445375858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3493966 (GRCh38)
16:3543966 (GRCh37)
Canonical SPDI:: NC_000016.10:3493965:G:A
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.3493966G>A, NC_000016.9:g.3543966G>A, NM_001080524.2:c.422C>T, NM_001080524.1:c.422C>T, NM_001353385.2:c.161C>T, NM_001353385.1:c.161C>T, NM_001353382.1:c.401C>T, NM_001353383.1:c.161C>T, NM_001353384.1:c.161C>T, XM_024450393.1:c.161C>T, NP_001073993.1:p.Pro141Leu, NP_001340314.1:p.Pro54Leu, NP_001340311.1:p.Pro134Leu, NP_001340312.1:p.Pro54Leu, NP_001340313.1:p.Pro54Leu, XP_024306161.1:p.Pro54Leu

Select item 143931585116.

rs1439315851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:3493947 (GRCh38)
16:3543947 (GRCh37)
Canonical SPDI:: NC_000016.10:3493946:G:A
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.3493947G>A, NC_000016.9:g.3543947G>A, NM_001080524.2:c.441C>T, NM_001080524.1:c.441C>T, NM_001353385.2:c.180C>T, NM_001353385.1:c.180C>T, NM_001353382.1:c.420C>T, NM_001353383.1:c.180C>T, NM_001353384.1:c.180C>T, XM_024450393.1:c.180C>T

Select item 143836759017.

rs1438367590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:3494640 (GRCh38)
16:3544640 (GRCh37)
Canonical SPDI:: NC_000016.10:3494639:T:C
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.3494640T>C, NC_000016.9:g.3544640T>C, NM_001080524.2:c.284A>G, NM_001080524.1:c.284A>G, NM_001353385.2:c.23A>G, NM_001353385.1:c.23A>G, NM_001353382.1:c.263A>G, NM_001353383.1:c.23A>G, NM_001353384.1:c.23A>G, XM_024450393.1:c.23A>G, NP_001073993.1:p.Gln95Arg, NP_001340314.1:p.Gln8Arg, NP_001340311.1:p.Gln88Arg, NP_001340312.1:p.Gln8Arg, NP_001340313.1:p.Gln8Arg, XP_024306161.1:p.Gln8Arg

Select item 143235835518.

rs1432358355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:3493870 (GRCh38)
16:3543870 (GRCh37)
Canonical SPDI:: NC_000016.10:3493869:C:G
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.3493870C>G, NC_000016.9:g.3543870C>G, NM_001080524.2:c.518G>C, NM_001080524.1:c.518G>C, NM_001353385.2:c.257G>C, NM_001353385.1:c.257G>C, NM_001353382.1:c.497G>C, NM_001353383.1:c.257G>C, NM_001353384.1:c.257G>C, XM_024450393.1:c.257G>C, NP_001073993.1:p.Arg173Thr, NP_001340314.1:p.Arg86Thr, NP_001340311.1:p.Arg166Thr, NP_001340312.1:p.Arg86Thr, NP_001340313.1:p.Arg86Thr, XP_024306161.1:p.Arg86Thr

Select item 142871973319.

rs1428719733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:3494768 (GRCh38)
16:3544768 (GRCh37)
Canonical SPDI:: NC_000016.10:3494767:G:T
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.3494768G>T, NC_000016.9:g.3544768G>T, NM_001080524.2:c.156C>A, NM_001080524.1:c.156C>A, NM_001353385.2:c.-106C>A, NM_001353385.1:c.-106C>A, NM_001353382.1:c.135C>A, NM_001353383.1:c.-106C>A, NM_001353384.1:c.-106C>A, XM_024450393.1:c.-106C>A, NP_001073993.1:p.Ser52Arg, NP_001340311.1:p.Ser45Arg

Select item 142716757720.

rs1427167577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:3494808 (GRCh38)
16:3544808 (GRCh37)
Canonical SPDI:: NC_000016.10:3494807:A:C
Gene:: CLUAP1 (Varview), C16orf90 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.3494808A>C, NC_000016.9:g.3544808A>C, NM_001080524.2:c.116T>G, NM_001080524.1:c.116T>G, NM_001353385.2:c.-146T>G, NM_001353385.1:c.-146T>G, NM_001353382.1:c.95T>G, NM_001353383.1:c.-146T>G, NM_001353384.1:c.-146T>G, XM_024450393.1:c.-146T>G, NP_001073993.1:p.Leu39Arg, NP_001340311.1:p.Leu32Arg

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