SNP Links for Protein (Select 767919741) - SNP

Links from Protein

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Select item 14892087521.

rs1489208752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219540214 (GRCh38)
2:220404936 (GRCh37)
Canonical SPDI:: NC_000002.12:219540213:C:T
Gene:: CHPF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219540214C>T, NC_000002.11:g.220404936C>T, NM_024536.6:c.1497G>A, NM_024536.5:c.1497G>A, XM_011511838.4:c.624G>A, XM_011511838.3:c.624G>A, XM_011511838.2:c.624G>A, XM_011511838.1:c.624G>A, NM_001195731.2:c.1011G>A, NM_001195731.1:c.1011G>A

Select item 14882113892.

rs1488211389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219540438 (GRCh38)
2:220405160 (GRCh37)
Canonical SPDI:: NC_000002.12:219540437:C:T
Gene:: CHPF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219540438C>T, NC_000002.11:g.220405160C>T, NM_024536.6:c.1273G>A, NM_024536.5:c.1273G>A, XM_011511838.4:c.400G>A, XM_011511838.3:c.400G>A, XM_011511838.2:c.400G>A, XM_011511838.1:c.400G>A, NM_001195731.2:c.787G>A, NM_001195731.1:c.787G>A, NP_078812.3:p.Val425Ile, XP_011510140.1:p.Val134Ile, NP_001182660.2:p.Val263Ile

Select item 14845647993.

rs1484564799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:219540224 (GRCh38)
2:220404946 (GRCh37)
Canonical SPDI:: NC_000002.12:219540223:A:T
Gene:: CHPF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219540224A>T, NC_000002.11:g.220404946A>T, NM_024536.6:c.1487T>A, NM_024536.5:c.1487T>A, XM_011511838.4:c.614T>A, XM_011511838.3:c.614T>A, XM_011511838.2:c.614T>A, XM_011511838.1:c.614T>A, NM_001195731.2:c.1001T>A, NM_001195731.1:c.1001T>A, NP_078812.3:p.Ile496Asn, XP_011510140.1:p.Ile205Asn, NP_001182660.2:p.Ile334Asn

Select item 14844238004.

rs1484423800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:219539494 (GRCh38)
2:220404216 (GRCh37)
Canonical SPDI:: NC_000002.12:219539493:C:G,NC_000002.12:219539493:C:T
Gene:: CHPF (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219539494C>G, NC_000002.12:g.219539494C>T, NC_000002.11:g.220404216C>G, NC_000002.11:g.220404216C>T, NM_024536.6:c.2217G>C, NM_024536.6:c.2217G>A, NM_024536.5:c.2217G>C, NM_024536.5:c.2217G>A, XM_011511838.4:c.1344G>C, XM_011511838.4:c.1344G>A, XM_011511838.3:c.1344G>C, XM_011511838.3:c.1344G>A, XM_011511838.2:c.1344G>C, XM_011511838.2:c.1344G>A, XM_011511838.1:c.1344G>C, XM_011511838.1:c.1344G>A, NM_001195731.2:c.1731G>C, NM_001195731.2:c.1731G>A, NM_001195731.1:c.1731G>C, NM_001195731.1:c.1731G>A, NP_078812.3:p.Arg739Ser, XP_011510140.1:p.Arg448Ser, NP_001182660.2:p.Arg577Ser

Select item 14836622435.

rs1483662243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219540266 (GRCh38)
2:220404988 (GRCh37)
Canonical SPDI:: NC_000002.12:219540265:G:A
Gene:: CHPF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219540266G>A, NC_000002.11:g.220404988G>A, NM_024536.6:c.1445C>T, NM_024536.5:c.1445C>T, XM_011511838.4:c.572C>T, XM_011511838.3:c.572C>T, XM_011511838.2:c.572C>T, XM_011511838.1:c.572C>T, NM_001195731.2:c.959C>T, NM_001195731.1:c.959C>T, NP_078812.3:p.Thr482Ile, XP_011510140.1:p.Thr191Ile, NP_001182660.2:p.Thr320Ile

Select item 14809704426.

rs1480970442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219539707 (GRCh38)
2:220404429 (GRCh37)
Canonical SPDI:: NC_000002.12:219539706:G:A
Gene:: CHPF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.219539707G>A, NC_000002.11:g.220404429G>A, NM_024536.6:c.2004C>T, NM_024536.5:c.2004C>T, XM_011511838.4:c.1131C>T, XM_011511838.3:c.1131C>T, XM_011511838.2:c.1131C>T, XM_011511838.1:c.1131C>T, NM_001195731.2:c.1518C>T, NM_001195731.1:c.1518C>T

Select item 14803234427.

rs1480323442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:219540448 (GRCh38)
2:220405170 (GRCh37)
Canonical SPDI:: NC_000002.12:219540447:A:G,NC_000002.12:219540447:A:T
Gene:: CHPF (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.219540448A>G, NC_000002.12:g.219540448A>T, NC_000002.11:g.220405170A>G, NC_000002.11:g.220405170A>T, NM_024536.6:c.1263T>C, NM_024536.6:c.1263T>A, NM_024536.5:c.1263T>C, NM_024536.5:c.1263T>A, XM_011511838.4:c.390T>C, XM_011511838.4:c.390T>A, XM_011511838.3:c.390T>C, XM_011511838.3:c.390T>A, XM_011511838.2:c.390T>C, XM_011511838.2:c.390T>A, XM_011511838.1:c.390T>C, XM_011511838.1:c.390T>A, NM_001195731.2:c.777T>C, NM_001195731.2:c.777T>A, NM_001195731.1:c.777T>C, NM_001195731.1:c.777T>A, NP_078812.3:p.Asp421Glu, XP_011510140.1:p.Asp130Glu, NP_001182660.2:p.Asp259Glu

Select item 14782144308.

rs1478214430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:219540578 (GRCh38)
2:220405300 (GRCh37)
Canonical SPDI:: NC_000002.12:219540577:C:A,NC_000002.12:219540577:C:T
Gene:: CHPF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219540578C>A, NC_000002.12:g.219540578C>T, NC_000002.11:g.220405300C>A, NC_000002.11:g.220405300C>T, NM_024536.6:c.1133G>T, NM_024536.6:c.1133G>A, NM_024536.5:c.1133G>T, NM_024536.5:c.1133G>A, XM_011511838.4:c.260G>T, XM_011511838.4:c.260G>A, XM_011511838.3:c.260G>T, XM_011511838.3:c.260G>A, XM_011511838.2:c.260G>T, XM_011511838.2:c.260G>A, XM_011511838.1:c.260G>T, XM_011511838.1:c.260G>A, NM_001195731.2:c.647G>T, NM_001195731.2:c.647G>A, NM_001195731.1:c.647G>T, NM_001195731.1:c.647G>A, NP_078812.3:p.Gly378Val, NP_078812.3:p.Gly378Asp, XP_011510140.1:p.Gly87Val, XP_011510140.1:p.Gly87Asp, NP_001182660.2:p.Gly216Val, NP_001182660.2:p.Gly216Asp

Select item 14781244959.

rs1478124495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219540985 (GRCh38)
2:220405707 (GRCh37)
Canonical SPDI:: NC_000002.12:219540984:A:G
Gene:: CHPF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219540985A>G, NC_000002.11:g.220405707A>G, NM_024536.6:c.1029T>C, NM_024536.5:c.1029T>C, XM_011511838.4:c.156T>C, XM_011511838.3:c.156T>C, XM_011511838.2:c.156T>C, XM_011511838.1:c.156T>C, NM_001195731.2:c.543T>C, NM_001195731.1:c.543T>C

Select item 147693325210.

rs1476933252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219540633 (GRCh38)
2:220405355 (GRCh37)
Canonical SPDI:: NC_000002.12:219540632:G:A
Gene:: CHPF (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000002.12:g.219540633G>A, NC_000002.11:g.220405355G>A, NM_024536.6:c.1078C>T, NM_024536.5:c.1078C>T, XM_011511838.4:c.205C>T, XM_011511838.3:c.205C>T, XM_011511838.2:c.205C>T, XM_011511838.1:c.205C>T, NM_001195731.2:c.592C>T, NM_001195731.1:c.592C>T, NP_078812.3:p.Gln360Ter, XP_011510140.1:p.Gln69Ter, NP_001182660.2:p.Gln198Ter

Select item 147649715511.

rs1476497155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:219539424 (GRCh38)
2:220404146 (GRCh37)
Canonical SPDI:: NC_000002.12:219539423:C:A,NC_000002.12:219539423:C:T
Gene:: CHPF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.219539424C>A, NC_000002.12:g.219539424C>T, NC_000002.11:g.220404146C>A, NC_000002.11:g.220404146C>T, NM_024536.6:c.2287G>T, NM_024536.6:c.2287G>A, NM_024536.5:c.2287G>T, NM_024536.5:c.2287G>A, XM_011511838.4:c.1414G>T, XM_011511838.4:c.1414G>A, XM_011511838.3:c.1414G>T, XM_011511838.3:c.1414G>A, XM_011511838.2:c.1414G>T, XM_011511838.2:c.1414G>A, XM_011511838.1:c.1414G>T, XM_011511838.1:c.1414G>A, NM_001195731.2:c.1801G>T, NM_001195731.2:c.1801G>A, NM_001195731.1:c.1801G>T, NM_001195731.1:c.1801G>A, NP_078812.3:p.Ala763Ser, NP_078812.3:p.Ala763Thr, XP_011510140.1:p.Ala472Ser, XP_011510140.1:p.Ala472Thr, NP_001182660.2:p.Ala601Ser, NP_001182660.2:p.Ala601Thr

Select item 147533483812.

rs1475334838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219539891 (GRCh38)
2:220404613 (GRCh37)
Canonical SPDI:: NC_000002.12:219539890:A:G
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219539891A>G, NC_000002.11:g.220404613A>G, NM_024536.6:c.1820T>C, NM_024536.5:c.1820T>C, XM_011511838.4:c.947T>C, XM_011511838.3:c.947T>C, XM_011511838.2:c.947T>C, XM_011511838.1:c.947T>C, NM_001195731.2:c.1334T>C, NM_001195731.1:c.1334T>C, NP_078812.3:p.Leu607Pro, XP_011510140.1:p.Leu316Pro, NP_001182660.2:p.Leu445Pro

Select item 147496876213.

rs1474968762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219540173 (GRCh38)
2:220404895 (GRCh37)
Canonical SPDI:: NC_000002.12:219540172:G:A
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219540173G>A, NC_000002.11:g.220404895G>A, NM_024536.6:c.1538C>T, NM_024536.5:c.1538C>T, XM_011511838.4:c.665C>T, XM_011511838.3:c.665C>T, XM_011511838.2:c.665C>T, XM_011511838.1:c.665C>T, NM_001195731.2:c.1052C>T, NM_001195731.1:c.1052C>T, NP_078812.3:p.Pro513Leu, XP_011510140.1:p.Pro222Leu, NP_001182660.2:p.Pro351Leu

Select item 147421210014.

rs1474212100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:219539664 (GRCh38)
2:220404386 (GRCh37)
Canonical SPDI:: NC_000002.12:219539663:C:A,NC_000002.12:219539663:C:T
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219539664C>A, NC_000002.12:g.219539664C>T, NC_000002.11:g.220404386C>A, NC_000002.11:g.220404386C>T, NM_024536.6:c.2047G>T, NM_024536.6:c.2047G>A, NM_024536.5:c.2047G>T, NM_024536.5:c.2047G>A, XM_011511838.4:c.1174G>T, XM_011511838.4:c.1174G>A, XM_011511838.3:c.1174G>T, XM_011511838.3:c.1174G>A, XM_011511838.2:c.1174G>T, XM_011511838.2:c.1174G>A, XM_011511838.1:c.1174G>T, XM_011511838.1:c.1174G>A, NM_001195731.2:c.1561G>T, NM_001195731.2:c.1561G>A, NM_001195731.1:c.1561G>T, NM_001195731.1:c.1561G>A, NP_078812.3:p.Asp683Tyr, NP_078812.3:p.Asp683Asn, XP_011510140.1:p.Asp392Tyr, XP_011510140.1:p.Asp392Asn, NP_001182660.2:p.Asp521Tyr, NP_001182660.2:p.Asp521Asn

Select item 146778840015.

rs1467788400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219540089 (GRCh38)
2:220404811 (GRCh37)
Canonical SPDI:: NC_000002.12:219540088:G:A
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.219540089G>A, NC_000002.11:g.220404811G>A, NM_024536.6:c.1622C>T, NM_024536.5:c.1622C>T, XM_011511838.4:c.749C>T, XM_011511838.3:c.749C>T, XM_011511838.2:c.749C>T, XM_011511838.1:c.749C>T, NM_001195731.2:c.1136C>T, NM_001195731.1:c.1136C>T, NP_078812.3:p.Ala541Val, XP_011510140.1:p.Ala250Val, NP_001182660.2:p.Ala379Val

Select item 146771817016.

rs1467718170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219539537 (GRCh38)
2:220404259 (GRCh37)
Canonical SPDI:: NC_000002.12:219539536:G:A
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.219539537G>A, NC_000002.11:g.220404259G>A, NM_024536.6:c.2174C>T, NM_024536.5:c.2174C>T, XM_011511838.4:c.1301C>T, XM_011511838.3:c.1301C>T, XM_011511838.2:c.1301C>T, XM_011511838.1:c.1301C>T, NM_001195731.2:c.1688C>T, NM_001195731.1:c.1688C>T, NP_078812.3:p.Pro725Leu, XP_011510140.1:p.Pro434Leu, NP_001182660.2:p.Pro563Leu

Select item 146698839717.

rs1466988397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:219540112 (GRCh38)
2:220404834 (GRCh37)
Canonical SPDI:: NC_000002.12:219540111:T:G
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219540112T>G, NC_000002.11:g.220404834T>G, NM_024536.6:c.1599A>C, NM_024536.5:c.1599A>C, XM_011511838.4:c.726A>C, XM_011511838.3:c.726A>C, XM_011511838.2:c.726A>C, XM_011511838.1:c.726A>C, NM_001195731.2:c.1113A>C, NM_001195731.1:c.1113A>C

Select item 146683006018.

rs1466830060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219540972 (GRCh38)
2:220405694 (GRCh37)
Canonical SPDI:: NC_000002.12:219540971:T:C
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219540972T>C, NC_000002.11:g.220405694T>C, NM_024536.6:c.1042A>G, NM_024536.5:c.1042A>G, XM_011511838.4:c.169A>G, XM_011511838.3:c.169A>G, XM_011511838.2:c.169A>G, XM_011511838.1:c.169A>G, NM_001195731.2:c.556A>G, NM_001195731.1:c.556A>G, NP_078812.3:p.Thr348Ala, XP_011510140.1:p.Thr57Ala, NP_001182660.2:p.Thr186Ala

Select item 146610630019.

rs1466106300 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGG>- [Show Flanks]
Chromosome:: 2:219540560 (GRCh38)
2:220405282 (GRCh37)
Canonical SPDI:: NC_000002.12:219540555:CGGGCGGG:CGGG
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGGCGGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219540556CGGG[1], NC_000002.11:g.220405278CGGG[1], NM_024536.6:c.1152_1155del, NM_024536.5:c.1152_1155del, XM_011511838.4:c.279_282del, XM_011511838.3:c.279_282del, XM_011511838.2:c.279_282del, XM_011511838.1:c.279_282del, NM_001195731.2:c.666_669del, NM_001195731.1:c.666_669del, NP_078812.3:p.Ala386fs, XP_011510140.1:p.Ala95fs, NP_001182660.2:p.Ala224fs

Select item 146478126820.

rs1464781268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:219541091 (GRCh38)
2:220405813 (GRCh37)
Canonical SPDI:: NC_000002.12:219541090:C:A
Gene:: CHPF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.219541091C>A, NC_000002.11:g.220405813C>A, NM_024536.6:c.923G>T, NM_024536.5:c.923G>T, XM_011511838.4:c.50G>T, XM_011511838.3:c.50G>T, XM_011511838.2:c.50G>T, XM_011511838.1:c.50G>T, NM_001195731.2:c.437G>T, NM_001195731.1:c.437G>T, NP_078812.3:p.Gly308Val, XP_011510140.1:p.Gly17Val, NP_001182660.2:p.Gly146Val

dbSNP

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