SNP Links for Protein (Select 4502895) - SNP

Links from Protein

Items: 1 to 20 of 142

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Select item 14824137071.

rs1482413707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35797211 (GRCh38)
6:35764988 (GRCh37)
Canonical SPDI:: NC_000006.12:35797210:G:A
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35797211G>A, NC_000006.11:g.35764988G>A, NG_012184.3:g.5006G>A, NM_001832.4:c.78C>T, NM_001832.3:c.78C>T, NM_001252597.2:c.-63C>T, NM_001252597.1:c.-63C>T, NM_001252598.2:c.78C>T, NM_001252598.1:c.78C>T

Select item 14738124212.

rs1473812421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:35795851 (GRCh38)
6:35763628 (GRCh37)
Canonical SPDI:: NC_000006.12:35795850:C:A
Gene:: CLPS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.35795851C>A, NC_000006.11:g.35763628C>A, NG_012184.3:g.3646C>A, NM_001832.4:c.87G>T, NM_001832.3:c.87G>T, NM_001252597.2:c.45G>T, NM_001252597.1:c.45G>T, NP_001823.1:p.Glu29Asp, NP_001239526.1:p.Glu15Asp

Select item 14682476983.

rs1468247698 has merged into rs762528702 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 6:35797225 (GRCh38)
6:35765002 (GRCh37)
Canonical SPDI:: NC_000006.12:35797224:GGGGG:GGGG,NC_000006.12:35797224:GGGGG:GGGGGG
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.35797229del, NC_000006.12:g.35797229dup, NC_000006.11:g.35765006del, NC_000006.11:g.35765006dup, NG_012184.3:g.5024del, NG_012184.3:g.5024dup, NM_001832.4:c.64del, NM_001832.4:c.64dup, NM_001832.3:c.64del, NM_001832.3:c.64dup, NM_001252597.2:c.-77del, NM_001252597.2:c.-77dup, NM_001252597.1:c.-77del, NM_001252597.1:c.-77dup, NM_001252598.2:c.64del, NM_001252598.2:c.64dup, NM_001252598.1:c.64del, NM_001252598.1:c.64dup, NP_001823.1:p.Arg22fs, NP_001823.1:p.Arg22fs, NP_001239527.1:p.Arg22fs, NP_001239527.1:p.Arg22fs

Select item 14563656314.

rs1456365631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:35795751 (GRCh38)
6:35763528 (GRCh37)
Canonical SPDI:: NC_000006.12:35795750:T:C
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35795751T>C, NC_000006.11:g.35763528T>C, NG_012184.3:g.3546T>C, NM_001832.4:c.187A>G, NM_001832.3:c.187A>G, NM_001252597.2:c.145A>G, NM_001252597.1:c.145A>G, NP_001823.1:p.Asn63Asp, NP_001239526.1:p.Asn49Asp

Select item 14521008615.

rs1452100861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:35795776 (GRCh38)
6:35763553 (GRCh37)
Canonical SPDI:: NC_000006.12:35795775:G:A,NC_000006.12:35795775:G:C
Gene:: CLPS (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.35795776G>A, NC_000006.12:g.35795776G>C, NC_000006.11:g.35763553G>A, NC_000006.11:g.35763553G>C, NG_012184.3:g.3571G>A, NG_012184.3:g.3571G>C, NM_001832.4:c.162C>T, NM_001832.4:c.162C>G, NM_001832.3:c.162C>T, NM_001832.3:c.162C>G, NM_001252597.2:c.120C>T, NM_001252597.2:c.120C>G, NM_001252597.1:c.120C>T, NM_001252597.1:c.120C>G

Select item 14482991266.

rs1448299126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:35795202 (GRCh38)
6:35762979 (GRCh37)
Canonical SPDI:: NC_000006.12:35795201:A:G
Gene:: CLPS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.35795202A>G, NC_000006.11:g.35762979A>G, NG_012184.3:g.2997A>G, NM_001832.4:c.283T>C, NM_001832.3:c.283T>C, NM_001252597.2:c.241T>C, NM_001252597.1:c.241T>C, NM_001252598.2:c.160T>C, NM_001252598.1:c.160T>C, NP_001823.1:p.Ser95Pro, NP_001239526.1:p.Ser81Pro, NP_001239527.1:p.Ser54Pro

Select item 14475606247.

rs1447560624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:35795810 (GRCh38)
6:35763587 (GRCh37)
Canonical SPDI:: NC_000006.12:35795809:T:A,NC_000006.12:35795809:T:G
Gene:: CLPS (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.35795810T>A, NC_000006.12:g.35795810T>G, NC_000006.11:g.35763587T>A, NC_000006.11:g.35763587T>G, NG_012184.3:g.3605T>A, NG_012184.3:g.3605T>G, NM_001832.4:c.128A>T, NM_001832.4:c.128A>C, NM_001832.3:c.128A>T, NM_001832.3:c.128A>C, NM_001252597.2:c.86A>T, NM_001252597.2:c.86A>C, NM_001252597.1:c.86A>T, NM_001252597.1:c.86A>C, NP_001823.1:p.Asn43Ile, NP_001823.1:p.Asn43Thr, NP_001239526.1:p.Asn29Ile, NP_001239526.1:p.Asn29Thr

Select item 14399163198.

rs1439916319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:35795192 (GRCh38)
6:35762969 (GRCh37)
Canonical SPDI:: NC_000006.12:35795191:T:C,NC_000006.12:35795191:T:G
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.35795192T>C, NC_000006.12:g.35795192T>G, NC_000006.11:g.35762969T>C, NC_000006.11:g.35762969T>G, NG_012184.3:g.2987T>C, NG_012184.3:g.2987T>G, NM_001832.4:c.293A>G, NM_001832.4:c.293A>C, NM_001832.3:c.293A>G, NM_001832.3:c.293A>C, NM_001252597.2:c.251A>G, NM_001252597.2:c.251A>C, NM_001252597.1:c.251A>G, NM_001252597.1:c.251A>C, NM_001252598.2:c.170A>G, NM_001252598.2:c.170A>C, NM_001252598.1:c.170A>G, NM_001252598.1:c.170A>C, NP_001823.1:p.Asn98Ser, NP_001823.1:p.Asn98Thr, NP_001239526.1:p.Asn84Ser, NP_001239526.1:p.Asn84Thr, NP_001239527.1:p.Asn57Ser, NP_001239527.1:p.Asn57Thr

Select item 14255845969.

rs1425584596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:35795182 (GRCh38)
6:35762959 (GRCh37)
Canonical SPDI:: NC_000006.12:35795181:A:G
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35795182A>G, NC_000006.11:g.35762959A>G, NG_012184.3:g.2977A>G, NM_001832.4:c.303T>C, NM_001832.3:c.303T>C, NM_001252597.2:c.261T>C, NM_001252597.1:c.261T>C, NM_001252598.2:c.180T>C, NM_001252598.1:c.180T>C

Select item 142298105510.

rs1422981055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35797261 (GRCh38)
6:35765038 (GRCh37)
Canonical SPDI:: NC_000006.12:35797260:C:T
Gene:: CLPS (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.35797261C>T, NC_000006.11:g.35765038C>T, NG_012184.3:g.5056C>T, NM_001832.4:c.28G>A, NM_001832.3:c.28G>A, NM_001252597.2:c.-113G>A, NM_001252597.1:c.-113G>A, NM_001252598.2:c.28G>A, NM_001252598.1:c.28G>A, NP_001823.1:p.Val10Ile, NP_001239527.1:p.Val10Ile

Select item 140480931111.

rs1404809311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:35795270 (GRCh38)
6:35763047 (GRCh37)
Canonical SPDI:: NC_000006.12:35795269:T:C
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.35795270T>C, NC_000006.11:g.35763047T>C, NG_012184.3:g.3065T>C, NM_001832.4:c.215A>G, NM_001832.3:c.215A>G, NM_001252597.2:c.173A>G, NM_001252597.1:c.173A>G, NM_001252598.2:c.92A>G, NM_001252598.1:c.92A>G, NP_001823.1:p.Tyr72Cys, NP_001239526.1:p.Tyr58Cys, NP_001239527.1:p.Tyr31Cys

Select item 140088068312.

rs1400880683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:35795258 (GRCh38)
6:35763035 (GRCh37)
Canonical SPDI:: NC_000006.12:35795257:T:C
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.35795258T>C, NC_000006.11:g.35763035T>C, NG_012184.3:g.3053T>C, NM_001832.4:c.227A>G, NM_001832.3:c.227A>G, NM_001252597.2:c.185A>G, NM_001252597.1:c.185A>G, NM_001252598.2:c.104A>G, NM_001252598.1:c.104A>G, NP_001823.1:p.Tyr76Cys, NP_001239526.1:p.Tyr62Cys, NP_001239527.1:p.Tyr35Cys

Select item 140047820213.

rs1400478202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:35797273 (GRCh38)
6:35765050 (GRCh37)
Canonical SPDI:: NC_000006.12:35797272:T:G
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35797273T>G, NC_000006.11:g.35765050T>G, NG_012184.3:g.5068T>G, NM_001832.4:c.16A>C, NM_001832.3:c.16A>C, NM_001252597.2:c.-125A>C, NM_001252597.1:c.-125A>C, NM_001252598.2:c.16A>C, NM_001252598.1:c.16A>C, NP_001823.1:p.Ile6Leu, NP_001239527.1:p.Ile6Leu

Select item 139974052014.

rs1399740520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:35795739 (GRCh38)
6:35763516 (GRCh37)
Canonical SPDI:: NC_000006.12:35795738:A:C
Gene:: CLPS (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35795739A>C, NC_000006.11:g.35763516A>C, NG_012184.3:g.3534A>C, NM_001832.4:c.199T>G, NM_001832.3:c.199T>G, NM_001252597.2:c.157T>G, NM_001252597.1:c.157T>G, NP_001823.1:p.Ser67Ala, NP_001239526.1:p.Ser53Ala

Select item 139544815315.

rs1395448153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:35797264 (GRCh38)
6:35765041 (GRCh37)
Canonical SPDI:: NC_000006.12:35797263:G:A
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_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_000006.12:g.35797264G>A, NC_000006.11:g.35765041G>A, NG_012184.3:g.5059G>A, NM_001832.4:c.25C>T, NM_001832.3:c.25C>T, NM_001252597.2:c.-116C>T, NM_001252597.1:c.-116C>T, NM_001252598.2:c.25C>T, NM_001252598.1:c.25C>T, NP_001823.1:p.Leu9Phe, NP_001239527.1:p.Leu9Phe

Select item 139198734516.

rs1391987345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35795800 (GRCh38)
6:35763577 (GRCh37)
Canonical SPDI:: NC_000006.12:35795799:C:T
Gene:: CLPS (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.35795800C>T, NC_000006.11:g.35763577C>T, NG_012184.3:g.3595C>T, NM_001832.4:c.138G>A, NM_001832.3:c.138G>A, NM_001252597.2:c.96G>A, NM_001252597.1:c.96G>A

Select item 139179016417.

rs1391790164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:35797260 (GRCh38)
6:35765037 (GRCh37)
Canonical SPDI:: NC_000006.12:35797259:A:C,NC_000006.12:35797259:A:T
Gene:: CLPS (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.35797260A>C, NC_000006.12:g.35797260A>T, NC_000006.11:g.35765037A>C, NC_000006.11:g.35765037A>T, NG_012184.3:g.5055A>C, NG_012184.3:g.5055A>T, NM_001832.4:c.29T>G, NM_001832.4:c.29T>A, NM_001832.3:c.29T>G, NM_001832.3:c.29T>A, NM_001252597.2:c.-112T>G, NM_001252597.2:c.-112T>A, NM_001252597.1:c.-112T>G, NM_001252597.1:c.-112T>A, NM_001252598.2:c.29T>G, NM_001252598.2:c.29T>A, NM_001252598.1:c.29T>G, NM_001252598.1:c.29T>A, NP_001823.1:p.Val10Gly, NP_001823.1:p.Val10Asp, NP_001239527.1:p.Val10Gly, NP_001239527.1:p.Val10Asp

Select item 139047703818.

rs1390477038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:35795756 (GRCh38)
6:35763533 (GRCh37)
Canonical SPDI:: NC_000006.12:35795755:C:T
Gene:: CLPS (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.35795756C>T, NC_000006.11:g.35763533C>T, NG_012184.3:g.3551C>T, NM_001832.4:c.182G>A, NM_001832.3:c.182G>A, NM_001252597.2:c.140G>A, NM_001252597.1:c.140G>A, NP_001823.1:p.Ser61Asn, NP_001239526.1:p.Ser47Asn

Select item 138478643219.

rs1384786432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:35795171 (GRCh38)
6:35762948 (GRCh37)
Canonical SPDI:: NC_000006.12:35795170:T:C
Gene:: CLPS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.35795171T>C, NC_000006.11:g.35762948T>C, NG_012184.3:g.2966T>C, NM_001832.4:c.314A>G, NM_001832.3:c.314A>G, NM_001252597.2:c.272A>G, NM_001252597.1:c.272A>G, NM_001252598.2:c.191A>G, NM_001252598.1:c.191A>G, NP_001823.1:p.His105Arg, NP_001239526.1:p.His91Arg, NP_001239527.1:p.His64Arg

Select item 137801883720.

rs1378018837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:35797276 (GRCh38)
6:35765053 (GRCh37)
Canonical SPDI:: NC_000006.12:35797275:G:C
Gene:: CLPS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000006.12:g.35797276G>C, NC_000006.11:g.35765053G>C, NG_012184.3:g.5071G>C, NM_001832.4:c.13C>G, NM_001832.3:c.13C>G, NM_001252597.2:c.-128C>G, NM_001252597.1:c.-128C>G, NM_001252598.2:c.13C>G, NM_001252598.1:c.13C>G, NP_001823.1:p.Leu5Val, NP_001239527.1:p.Leu5Val

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