SNP Links for Protein (Select 669633280) - SNP

Links from Protein

Items: 1 to 20 of 78

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Select item 14546515821.

rs1454651582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:56666881 (GRCh38)
16:56700793 (GRCh37)
Canonical SPDI:: NC_000016.10:56666880:A:T
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: terminator_codon_variant,500B_downstream_variant,downstream_transcript_variant,stop_lost
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56666881A>T, NC_000016.9:g.56700793A>T, NM_005950.3:c.184T>A, NM_005950.2:c.184T>A, NM_005950.1:c.184T>A, NM_001301267.2:c.187T>A, NM_001301267.1:c.187T>A, NP_005941.1:p.Ter62Arg, NP_001288196.1:p.Ter63Arg

Select item 14460499732.

rs1446049973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:56666897 (GRCh38)
16:56700809 (GRCh37)
Canonical SPDI:: NC_000016.10:56666896:C:G
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000032/8 (GnomAD_exomes)
G=0.000078/11 (GnomAD)
G=0.000094/25 (TOPMED)
HGVS:: NC_000016.10:g.56666897C>G, NC_000016.9:g.56700809C>G, NM_005950.3:c.168G>C, NM_005950.2:c.168G>C, NM_005950.1:c.168G>C, NM_001301267.2:c.171G>C, NM_001301267.1:c.171G>C, NP_005941.1:p.Lys56Asn, NP_001288196.1:p.Lys57Asn

Select item 14378433183.

rs1437843318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:56666952 (GRCh38)
16:56700864 (GRCh37)
Canonical SPDI:: NC_000016.10:56666951:G:C
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56666952G>C, NC_000016.9:g.56700864G>C, NM_005950.3:c.113C>G, NM_005950.2:c.113C>G, NM_005950.1:c.113C>G, NM_001301267.2:c.116C>G, NM_001301267.1:c.116C>G, NP_005941.1:p.Pro38Arg, NP_001288196.1:p.Pro39Arg

Select item 14331935854.

rs1433193585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56667341 (GRCh38)
16:56701253 (GRCh37)
Canonical SPDI:: NC_000016.10:56667340:T:C
Gene:: MT1G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56667341T>C, NC_000016.9:g.56701253T>C, NM_005950.3:c.65A>G, NM_005950.2:c.65A>G, NM_005950.1:c.65A>G, NM_001301267.2:c.68A>G, NM_001301267.1:c.68A>G, NM_032699.1:c.*96A>G, NP_005941.1:p.Lys22Arg, NP_001288196.1:p.Lys23Arg

Select item 14251746265.

rs1425174626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:56667971 (GRCh38)
16:56701883 (GRCh37)
Canonical SPDI:: NC_000016.10:56667970:G:T
Gene:: MT1G (Varview), MT1H (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56667971G>T, NC_000016.9:g.56701883G>T, NM_005950.3:c.23C>A, NM_005950.2:c.23C>A, NM_005950.1:c.23C>A, NM_001301267.2:c.23C>A, NM_001301267.1:c.23C>A, NM_032699.1:c.-433C>A, NP_005941.1:p.Ala8Asp, NP_001288196.1:p.Ala8Asp

Select item 14063740376.

rs1406374037 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATTTGCACTCTTTGCACTTGCAGGAGCTG [Show Flanks]
Chromosome:: 16:56667326 (GRCh38)
16:56701239 (GRCh37)
Canonical SPDI:: NC_000016.10:56667326:TGCATTTGCACTCTTTGCACTTGCAGGAGCTG:TGCATTTGCACTCTTTGCACTTGCAGGAGCTGCATTTGCACTCTTTGCACTTGCAGGAGCTG
Gene:: MT1G (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: TGCATTTGCACTCTTTGCACTTGCAGGAGC=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.56667329_56667358dup, NC_000016.9:g.56701241_56701270dup, NM_005950.3:c.50_79dup, NM_005950.2:c.50_79dup, NM_005950.1:c.50_79dup, NM_001301267.2:c.53_82dup, NM_001301267.1:c.53_82dup, NM_032699.1:c.*81_*110dup, NP_005941.1:p.Ser17_Cys26dup, NP_001288196.1:p.Ser18_Cys27dup

Select item 13967393497.

rs1396739349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56666880 (GRCh38)
16:56700792 (GRCh37)
Canonical SPDI:: NC_000016.10:56666879:C:T
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: terminator_codon_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56666880C>T, NC_000016.9:g.56700792C>T, NM_005950.3:c.185G>A, NM_005950.2:c.185G>A, NM_005950.1:c.185G>A, NM_001301267.2:c.188G>A, NM_001301267.1:c.188G>A

Select item 13739067148.

rs1373906714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:56666901 (GRCh38)
16:56700813 (GRCh37)
Canonical SPDI:: NC_000016.10:56666900:T:G
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56666901T>G, NC_000016.9:g.56700813T>G, NM_005950.3:c.164A>C, NM_005950.2:c.164A>C, NM_005950.1:c.164A>C, NM_001301267.2:c.167A>C, NM_001301267.1:c.167A>C, NP_005941.1:p.Glu55Ala, NP_001288196.1:p.Glu56Ala

Select item 13659411819.

rs1365941181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:56666964 (GRCh38)
16:56700876 (GRCh37)
Canonical SPDI:: NC_000016.10:56666963:C:T
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_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.56666964C>T, NC_000016.9:g.56700876C>T, NM_005950.3:c.101G>A, NM_005950.2:c.101G>A, NM_005950.1:c.101G>A, NM_001301267.2:c.104G>A, NM_001301267.1:c.104G>A, NM_032699.1:c.*132G>A, NP_005941.1:p.Cys34Tyr, NP_001288196.1:p.Cys35Tyr

Select item 135677340810.

rs1356773408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56667367 (GRCh38)
16:56701279 (GRCh37)
Canonical SPDI:: NC_000016.10:56667366:G:A
Gene:: MT1G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.56667367G>A, NC_000016.9:g.56701279G>A, NM_005950.3:c.39C>T, NM_005950.2:c.39C>T, NM_005950.1:c.39C>T, NM_001301267.2:c.42C>T, NM_001301267.1:c.42C>T, NM_032699.1:c.*70C>T

Select item 134719903411.

rs1347199034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:56666943 (GRCh38)
16:56700855 (GRCh37)
Canonical SPDI:: NC_000016.10:56666942:C:G,NC_000016.10:56666942:C:T
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.56666943C>G, NC_000016.10:g.56666943C>T, NC_000016.9:g.56700855C>G, NC_000016.9:g.56700855C>T, NM_005950.3:c.122G>C, NM_005950.3:c.122G>A, NM_005950.2:c.122G>C, NM_005950.2:c.122G>A, NM_005950.1:c.122G>C, NM_005950.1:c.122G>A, NM_001301267.2:c.125G>C, NM_001301267.2:c.125G>A, NM_001301267.1:c.125G>C, NM_001301267.1:c.125G>A, NP_005941.1:p.Cys41Ser, NP_005941.1:p.Cys41Tyr, NP_001288196.1:p.Cys42Ser, NP_001288196.1:p.Cys42Tyr

Select item 133030616912.

rs1330306169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56667379 (GRCh38)
16:56701291 (GRCh37)
Canonical SPDI:: NC_000016.10:56667378:T:C
Gene:: MT1G (Varview)
Functional Consequence:: synonymous_variant,splice_acceptor_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56667379T>C, NC_000016.9:g.56701291T>C, NM_001301267.2:c.30A>G, NM_001301267.1:c.30A>G, NM_032699.1:c.*58A>G

Select item 132787983213.

rs1327879832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56666879 (GRCh38)
16:56700791 (GRCh37)
Canonical SPDI:: NC_000016.10:56666878:T:C
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: stop_lost,500B_downstream_variant,downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.56666879T>C, NC_000016.9:g.56700791T>C, NM_005950.3:c.186A>G, NM_005950.2:c.186A>G, NM_005950.1:c.186A>G, NM_001301267.2:c.189A>G, NM_001301267.1:c.189A>G, NP_005941.1:p.Ter62Trp, NP_001288196.1:p.Ter63Trp

Select item 132477089414.

rs1324770894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:56667330 (GRCh38)
16:56701242 (GRCh37)
Canonical SPDI:: NC_000016.10:56667329:A:C
Gene:: MT1G (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000016.10:g.56667330A>C, NC_000016.9:g.56701242A>C, NM_005950.3:c.76T>G, NM_005950.2:c.76T>G, NM_005950.1:c.76T>G, NM_001301267.2:c.79T>G, NM_001301267.1:c.79T>G, NM_032699.1:c.*107T>G, NP_005941.1:p.Cys26Gly, NP_001288196.1:p.Cys27Gly

Select item 130680473115.

rs1306804731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:56667318 (GRCh38)
16:56701230 (GRCh37)
Canonical SPDI:: NC_000016.10:56667317:T:C
Gene:: MT1G (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.56667318T>C, NC_000016.9:g.56701230T>C, NM_005950.3:c.88A>G, NM_005950.2:c.88A>G, NM_005950.1:c.88A>G, NM_001301267.2:c.91A>G, NM_001301267.1:c.91A>G, NM_032699.1:c.*119A>G, NP_005941.1:p.Lys30Glu, NP_001288196.1:p.Lys31Glu

Select item 130006631016.

rs1300066310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56666891 (GRCh38)
16:56700803 (GRCh37)
Canonical SPDI:: NC_000016.10:56666890:G:A
Gene:: MT1G (Varview), LOC101927536 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.56666891G>A, NC_000016.9:g.56700803G>A, NM_005950.3:c.174C>T, NM_005950.2:c.174C>T, NM_005950.1:c.174C>T, NM_001301267.2:c.177C>T, NM_001301267.1:c.177C>T

Select item 129335398117.

rs1293353981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:56667319 (GRCh38)
16:56701231 (GRCh37)
Canonical SPDI:: NC_000016.10:56667318:G:C
Gene:: MT1G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.56667319G>C, NC_000016.9:g.56701231G>C, NM_005950.3:c.87C>G, NM_005950.2:c.87C>G, NM_005950.1:c.87C>G, NM_001301267.2:c.90C>G, NM_001301267.1:c.90C>G, NM_032699.1:c.*118C>G, NP_005941.1:p.Cys29Trp, NP_001288196.1:p.Cys30Trp

Select item 127886839018.

rs1278868390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:56667346 (GRCh38)
16:56701258 (GRCh37)
Canonical SPDI:: NC_000016.10:56667345:C:A,NC_000016.10:56667345:C:T
Gene:: MT1G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000016.10:g.56667346C>A, NC_000016.10:g.56667346C>T, NC_000016.9:g.56701258C>A, NC_000016.9:g.56701258C>T, NM_005950.3:c.60G>T, NM_005950.3:c.60G>A, NM_005950.2:c.60G>T, NM_005950.2:c.60G>A, NM_005950.1:c.60G>T, NM_005950.1:c.60G>A, NM_001301267.2:c.63G>T, NM_001301267.2:c.63G>A, NM_001301267.1:c.63G>T, NM_001301267.1:c.63G>A, NM_032699.1:c.*91G>T, NM_032699.1:c.*91G>A, NP_005941.1:p.Lys20Asn, NP_001288196.1:p.Lys21Asn

Select item 127668502119.

rs1276685021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:56667336 (GRCh38)
16:56701248 (GRCh37)
Canonical SPDI:: NC_000016.10:56667335:A:T
Gene:: MT1G (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.56667336A>T, NC_000016.9:g.56701248A>T, NM_005950.3:c.70T>A, NM_005950.2:c.70T>A, NM_005950.1:c.70T>A, NM_001301267.2:c.73T>A, NM_001301267.1:c.73T>A, NM_032699.1:c.*101T>A, NP_005941.1:p.Cys24Ser, NP_001288196.1:p.Cys25Ser

Select item 127526436020.

rs1275264360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:56667325 (GRCh38)
16:56701237 (GRCh37)
Canonical SPDI:: NC_000016.10:56667324:G:A
Gene:: MT1G (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.56667325G>A, NC_000016.9:g.56701237G>A, NM_005950.3:c.81C>T, NM_005950.2:c.81C>T, NM_005950.1:c.81C>T, NM_001301267.2:c.84C>T, NM_001301267.1:c.84C>T, NM_032699.1:c.*112C>T

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