SNP Links for Protein (Select 4502643) - SNP

Links from Protein

Items: 1 to 20 of 449

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Select item 14907612441.

rs1490761244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56060851 (GRCh38)
7:56128544 (GRCh37)
Canonical SPDI:: NC_000007.14:56060850:G:A
Gene:: CCT6A (Varview), SNORA15 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56060851G>A, NC_000007.13:g.56128544G>A, NM_001762.4:c.1258G>A, NM_001762.3:c.1258G>A, NM_001009186.2:c.1123G>A, NM_001009186.1:c.1123G>A, NP_001753.1:p.Glu420Lys, NP_001009186.1:p.Glu375Lys

Select item 14903033202.

rs1490303320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:56060927 (GRCh38)
7:56128620 (GRCh37)
Canonical SPDI:: NC_000007.14:56060926:T:C
Gene:: CCT6A (Varview), SNORA15 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.56060927T>C, NC_000007.13:g.56128620T>C, NM_001762.4:c.1334T>C, NM_001762.3:c.1334T>C, NM_001009186.2:c.1199T>C, NM_001009186.1:c.1199T>C, NP_001753.1:p.Leu445Pro, NP_001009186.1:p.Leu400Pro

Select item 14899591093.

rs1489959109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:56060271 (GRCh38)
7:56127964 (GRCh37)
Canonical SPDI:: NC_000007.14:56060270:A:C
Gene:: CCT6A (Varview), SNORA15 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.56060271A>C, NC_000007.13:g.56127964A>C, NM_001762.4:c.1068A>C, NM_001762.3:c.1068A>C, NM_001009186.2:c.933A>C, NM_001009186.1:c.933A>C

Select item 14885689554.

rs1488568955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:56056354 (GRCh38)
7:56124047 (GRCh37)
Canonical SPDI:: NC_000007.14:56056353:C:G
Gene:: CCT6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56056354C>G, NC_000007.13:g.56124047C>G, NG_011473.1:g.222G>C, NM_001762.4:c.554C>G, NM_001762.3:c.554C>G, NM_001009186.2:c.419C>G, NM_001009186.1:c.419C>G, NP_001753.1:p.Pro185Arg, NP_001009186.1:p.Pro140Arg

Select item 14879872895.

rs1487987289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56054423 (GRCh38)
7:56122116 (GRCh37)
Canonical SPDI:: NC_000007.14:56054422:G:A
Gene:: CCT6A (Varview), SNORA22B (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.56054423G>A, NC_000007.13:g.56122116G>A, NG_011473.1:g.2153C>T, NM_001762.4:c.256G>A, NM_001762.3:c.256G>A, NP_001753.1:p.Asp86Asn

Select item 14867210796.

rs1486721079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:56051852 (GRCh38)
7:56119545 (GRCh37)
Canonical SPDI:: NC_000007.14:56051851:G:A,NC_000007.14:56051851:G:C
Gene:: CCT6A (Varview), PSPH (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56051852G>A, NC_000007.14:g.56051852G>C, NC_000007.13:g.56119545G>A, NC_000007.13:g.56119545G>C, NG_011473.1:g.4724C>T, NG_011473.1:g.4724C>G, NM_001762.4:c.4G>A, NM_001762.4:c.4G>C, NM_001762.3:c.4G>A, NM_001762.3:c.4G>C, NM_001009186.2:c.4G>A, NM_001009186.2:c.4G>C, NM_001009186.1:c.4G>A, NM_001009186.1:c.4G>C, NP_001753.1:p.Ala2Thr, NP_001753.1:p.Ala2Pro, NP_001009186.1:p.Ala2Thr, NP_001009186.1:p.Ala2Pro

Select item 14844079717.

rs1484407971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:56055700 (GRCh38)
7:56123393 (GRCh37)
Canonical SPDI:: NC_000007.14:56055699:A:G
Gene:: CCT6A (Varview), SNORA22B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56055700A>G, NC_000007.13:g.56123393A>G, NG_011473.1:g.876T>C, NM_001762.4:c.413A>G, NM_001762.3:c.413A>G, NM_001009186.2:c.278A>G, NM_001009186.1:c.278A>G, NP_001753.1:p.Lys138Arg, NP_001009186.1:p.Lys93Arg

Select item 14824499028.

rs1482449902 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:56058450 (GRCh38)
7:56126143 (GRCh37)
Canonical SPDI:: NC_000007.14:56058449:AAAAAAA:AAAAAA
Gene:: CCT6A (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.56058456del, NC_000007.13:g.56126149del, NM_001762.4:c.820del, NM_001762.3:c.820del, NM_001009186.2:c.685del, NM_001009186.1:c.685del, NP_001753.1:p.Lys273_Ile274insTer, NP_001009186.1:p.Lys228_Ile229insTer

Select item 14801836929.

rs1480183692 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:56058482 (GRCh38)
7:56126175 (GRCh37)
Canonical SPDI:: NC_000007.14:56058479:TGTG:TG
Gene:: CCT6A (Varview), SNORA15 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56058480TG[1], NC_000007.13:g.56126173TG[1], NM_001762.4:c.846_847del, NM_001762.3:c.846_847del, NM_001009186.2:c.711_712del, NM_001009186.1:c.711_712del, NP_001753.1:p.Cys282fs, NP_001009186.1:p.Cys237fs

Select item 147961526110.

rs1479615261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:56058519 (GRCh38)
7:56126212 (GRCh37)
Canonical SPDI:: NC_000007.14:56058518:A:G
Gene:: CCT6A (Varview), SNORA15 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_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_000007.14:g.56058519A>G, NC_000007.13:g.56126212A>G, NM_001762.4:c.883A>G, NM_001762.3:c.883A>G, NM_001009186.2:c.748A>G, NM_001009186.1:c.748A>G, NP_001753.1:p.Lys295Glu, NP_001009186.1:p.Lys250Glu

Select item 147236002111.

rs1472360021 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:56056367 (GRCh38)
7:56124060 (GRCh37)
Canonical SPDI:: NC_000007.14:56056366:C:
Gene:: CCT6A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56056367del, NC_000007.13:g.56124060del, NG_011473.1:g.209del, NM_001762.4:c.567del, NM_001762.3:c.567del, NM_001009186.2:c.432del, NM_001009186.1:c.432del, NP_001753.1:p.Phe189fs, NP_001009186.1:p.Phe144fs

Select item 146940801112.

rs1469408011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:56059565 (GRCh38)
7:56127258 (GRCh37)
Canonical SPDI:: NC_000007.14:56059564:G:T
Gene:: CCT6A (Varview), SNORA15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.56059565G>T, NC_000007.13:g.56127258G>T, NM_001762.4:c.990G>T, NM_001762.3:c.990G>T, NM_001009186.2:c.855G>T, NM_001009186.1:c.855G>T

Select item 146892451013.

rs1468924510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56061765 (GRCh38)
7:56129458 (GRCh37)
Canonical SPDI:: NC_000007.14:56061764:G:A
Gene:: CCT6A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56061765G>A, NC_000007.13:g.56129458G>A, NM_001762.4:c.1366G>A, NM_001762.3:c.1366G>A, NM_001009186.2:c.1231G>A, NM_001009186.1:c.1231G>A, NP_001753.1:p.Gly456Ser, NP_001009186.1:p.Gly411Ser

Select item 146289801914.

rs1462898019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:56063082 (GRCh38)
7:56130775 (GRCh37)
Canonical SPDI:: NC_000007.14:56063081:T:G
Gene:: CCT6A (Varview), SUMF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56063082T>G, NC_000007.13:g.56130775T>G, NM_001762.4:c.1593T>G, NM_001762.3:c.1593T>G, NM_001009186.2:c.1458T>G, NM_001009186.1:c.1458T>G

Select item 146191125315.

rs1461911253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:56054404 (GRCh38)
7:56122097 (GRCh37)
Canonical SPDI:: NC_000007.14:56054403:G:A
Gene:: CCT6A (Varview), SNORA22B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56054404G>A, NC_000007.13:g.56122097G>A, NG_011473.1:g.2172C>T, NM_001762.4:c.237G>A, NM_001762.3:c.237G>A

Select item 146179605716.

rs1461796057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:56055726 (GRCh38)
7:56123419 (GRCh37)
Canonical SPDI:: NC_000007.14:56055725:A:G
Gene:: CCT6A (Varview), SNORA22B (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.56055726A>G, NC_000007.13:g.56123419A>G, NG_011473.1:g.850T>C, NM_001762.4:c.439A>G, NM_001762.3:c.439A>G, NM_001009186.2:c.304A>G, NM_001009186.1:c.304A>G, NP_001753.1:p.Thr147Ala, NP_001009186.1:p.Thr102Ala

Select item 145471917117.

rs1454719171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:56054385 (GRCh38)
7:56122078 (GRCh37)
Canonical SPDI:: NC_000007.14:56054384:C:T
Gene:: CCT6A (Varview), SNORA22B (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56054385C>T, NC_000007.13:g.56122078C>T, NG_011473.1:g.2191G>A, NM_001762.4:c.218C>T, NM_001762.3:c.218C>T, NP_001753.1:p.Thr73Ile

Select item 145277455318.

rs1452774553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:56056348 (GRCh38)
7:56124041 (GRCh37)
Canonical SPDI:: NC_000007.14:56056347:A:G
Gene:: CCT6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.56056348A>G, NC_000007.13:g.56124041A>G, NG_011473.1:g.228T>C, NM_001762.4:c.548A>G, NM_001762.3:c.548A>G, NM_001009186.2:c.413A>G, NM_001009186.1:c.413A>G, NP_001753.1:p.Asp183Gly, NP_001009186.1:p.Asp138Gly

Select item 145218430719.

rs1452184307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:56051868 (GRCh38)
7:56119561 (GRCh37)
Canonical SPDI:: NC_000007.14:56051867:T:A
Gene:: CCT6A (Varview), PSPH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.56051868T>A, NC_000007.13:g.56119561T>A, NG_011473.1:g.4708A>T, NM_001762.4:c.20T>A, NM_001762.3:c.20T>A, NM_001009186.2:c.20T>A, NM_001009186.1:c.20T>A, NP_001753.1:p.Leu7Gln, NP_001009186.1:p.Leu7Gln

Select item 145043404120.

rs1450434041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:56060909 (GRCh38)
7:56128602 (GRCh37)
Canonical SPDI:: NC_000007.14:56060908:C:T
Gene:: CCT6A (Varview), SNORA15 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.56060909C>T, NC_000007.13:g.56128602C>T, NM_001762.4:c.1316C>T, NM_001762.3:c.1316C>T, NM_001009186.2:c.1181C>T, NM_001009186.1:c.1181C>T, NP_001753.1:p.Ala439Val, NP_001009186.1:p.Ala394Val

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