SNP Links for Protein (Select 315709502) - SNP

Links from Protein

Items: 1 to 20 of 357

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Select item 14857775581.

rs1485777558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108987609 (GRCh38)
6:109308812 (GRCh37)
Canonical SPDI:: NC_000006.12:108987608:T:C
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.108987609T>C, NC_000006.11:g.109308812T>C, NG_029518.1:g.111897A>G, NM_014454.3:c.1591A>G, NM_014454.2:c.1591A>G, NM_001199934.2:c.1216A>G, NM_001199934.1:c.1216A>G, NM_001199933.2:c.1414A>G, NM_001199933.1:c.1414A>G, NP_055269.1:p.Ile531Val, NP_001186863.1:p.Ile406Val, NP_001186862.1:p.Ile472Val

Select item 14844718032.

rs1484471803 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAG>- [Show Flanks]
Chromosome:: 6:108990736 (GRCh38)
6:109311939 (GRCh37)
Canonical SPDI:: NC_000006.12:108990731:TAAGTAAG:TAAG
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAGTAAG=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.108990732TAAG[1], NC_000006.11:g.109311935TAAG[1], NG_029518.1:g.108767CTTA[1], NM_014454.3:c.1334_1337del, NM_014454.2:c.1334_1337del, NM_001199934.2:c.959_962del, NM_001199934.1:c.959_962del, NM_001199933.2:c.1157_1160del, NM_001199933.1:c.1157_1160del, XM_011536168.4:c.*1914TAAG[1], XM_011536168.2:c.*1920_*1921insG, XM_011536168.2:c.*1918_*1920del, NP_055269.1:p.Thr445fs, NP_001186863.1:p.Thr320fs, NP_001186862.1:p.Thr386fs

Select item 14825873463.

rs1482587346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:108987562 (GRCh38)
6:109308765 (GRCh37)
Canonical SPDI:: NC_000006.12:108987561:A:C,NC_000006.12:108987561:A:T
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,synonymous_variant,intron_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_000006.12:g.108987562A>C, NC_000006.12:g.108987562A>T, NC_000006.11:g.109308765A>C, NC_000006.11:g.109308765A>T, NG_029518.1:g.111944T>G, NG_029518.1:g.111944T>A, NM_014454.3:c.1638T>G, NM_014454.3:c.1638T>A, NM_014454.2:c.1638T>G, NM_014454.2:c.1638T>A, NM_001199934.2:c.1263T>G, NM_001199934.2:c.1263T>A, NM_001199934.1:c.1263T>G, NM_001199934.1:c.1263T>A, NM_001199933.2:c.1461T>G, NM_001199933.2:c.1461T>A, NM_001199933.1:c.1461T>G, NM_001199933.1:c.1461T>A, NP_055269.1:p.Ile546Met, NP_001186863.1:p.Ile421Met, NP_001186862.1:p.Ile487Met

Select item 14822870064.

rs1482287006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108990741 (GRCh38)
6:109311944 (GRCh37)
Canonical SPDI:: NC_000006.12:108990740:T:C
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108990741T>C, NC_000006.11:g.109311944T>C, NG_029518.1:g.108765A>G, NM_014454.3:c.1328A>G, NM_014454.2:c.1328A>G, NM_001199934.2:c.953A>G, NM_001199934.1:c.953A>G, NM_001199933.2:c.1151A>G, NM_001199933.1:c.1151A>G, XM_011536168.4:c.*1923T>C, NP_055269.1:p.Asn443Ser, NP_001186863.1:p.Asn318Ser, NP_001186862.1:p.Asn384Ser

Select item 14794312365.

rs1479431236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108998737 (GRCh38)
6:109319940 (GRCh37)
Canonical SPDI:: NC_000006.12:108998736:C:T
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108998737C>T, NC_000006.11:g.109319940C>T, NG_029518.1:g.100769G>A, NM_014454.3:c.748G>A, NM_014454.2:c.748G>A, NM_001199934.2:c.373G>A, NM_001199934.1:c.373G>A, NM_001199933.2:c.571G>A, NM_001199933.1:c.571G>A, NP_055269.1:p.Glu250Lys, NP_001186863.1:p.Glu125Lys, NP_001186862.1:p.Glu191Lys

Select item 14776190736.

rs1477619073 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:108998663 (GRCh38)
6:109319866 (GRCh37)
Canonical SPDI:: NC_000006.12:108998662:G:
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108998663del, NC_000006.11:g.109319866del, NG_029518.1:g.100843del, NM_014454.3:c.822del, NM_014454.2:c.822del, NM_001199934.2:c.447del, NM_001199934.1:c.447del, NM_001199933.2:c.645del, NM_001199933.1:c.645del, NP_055269.1:p.Phe274fs, NP_001186863.1:p.Phe149fs, NP_001186862.1:p.Phe215fs

Select item 14758515387.

rs1475851538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108990796 (GRCh38)
6:109311999 (GRCh37)
Canonical SPDI:: NC_000006.12:108990795:G:A
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.108990796G>A, NC_000006.11:g.109311999G>A, NG_029518.1:g.108710C>T, NM_014454.3:c.1273C>T, NM_014454.2:c.1273C>T, NM_001199934.2:c.898C>T, NM_001199934.1:c.898C>T, NM_001199933.2:c.1096C>T, NM_001199933.1:c.1096C>T, XM_011536168.4:c.*1978G>A, NP_055269.1:p.Arg425Cys, NP_001186863.1:p.Arg300Cys, NP_001186862.1:p.Arg366Cys

Select item 14749651888.

rs1474965188 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 6:109000571 (GRCh38)
6:109321774 (GRCh37)
Canonical SPDI:: NC_000006.12:109000567:GAGGAG:GAG
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.109000568GAG[1], NC_000006.11:g.109321771GAG[1], NG_029518.1:g.98933CTC[1], NM_014454.3:c.647CTC[1], NM_014454.2:c.647CTC[1], NM_001199934.2:c.272CTC[1], NM_001199934.1:c.272CTC[1], NM_001199933.2:c.470CTC[1], NM_001199933.1:c.470CTC[1], NP_055269.1:p.Pro217del, NP_001186863.1:p.Pro92del, NP_001186862.1:p.Pro158del

Select item 14739583949.

rs1473958394 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:108988632 (GRCh38)
6:109309835 (GRCh37)
Canonical SPDI:: NC_000006.12:108988631:C:
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108988632del, NC_000006.11:g.109309835del, NG_029518.1:g.110874del, NM_014454.3:c.1480del, NM_014454.2:c.1480del, NM_001199934.2:c.1105del, NM_001199934.1:c.1105del, NM_001199933.2:c.1303del, NM_001199933.1:c.1303del, NP_055269.1:p.Val494fs, NP_001186863.1:p.Val369fs, NP_001186862.1:p.Val435fs

Select item 147370091010.

rs1473700910 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108990669 (GRCh38)
6:109311872 (GRCh37)
Canonical SPDI:: NC_000006.12:108990668:T:C
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,intron_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_000006.12:g.108990669T>C, NC_000006.11:g.109311872T>C, NG_029518.1:g.108837A>G, NM_014454.3:c.1400A>G, NM_014454.2:c.1400A>G, NM_001199934.2:c.1025A>G, NM_001199934.1:c.1025A>G, NM_001199933.2:c.1223A>G, NM_001199933.1:c.1223A>G, XM_011536168.4:c.*1851T>C, XM_011536168.2:c.*1851T>C, NP_055269.1:p.Tyr467Cys, NP_001186863.1:p.Tyr342Cys, NP_001186862.1:p.Tyr408Cys

Select item 147331778011.

rs1473317780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:108988586 (GRCh38)
6:109309789 (GRCh37)
Canonical SPDI:: NC_000006.12:108988585:C:G
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108988586C>G, NC_000006.11:g.109309789C>G, NG_029518.1:g.110920G>C, NM_014454.3:c.1526G>C, NM_014454.2:c.1526G>C, NM_001199934.2:c.1151G>C, NM_001199934.1:c.1151G>C, NM_001199933.2:c.1349G>C, NM_001199933.1:c.1349G>C, NP_055269.1:p.Arg509Thr, NP_001186863.1:p.Arg384Thr, NP_001186862.1:p.Arg450Thr

Select item 147230988912.

rs1472309889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:108998661 (GRCh38)
6:109319864 (GRCh37)
Canonical SPDI:: NC_000006.12:108998660:G:A
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108998661G>A, NC_000006.11:g.109319864G>A, NG_029518.1:g.100845C>T, NM_014454.3:c.824C>T, NM_014454.2:c.824C>T, NM_001199934.2:c.449C>T, NM_001199934.1:c.449C>T, NM_001199933.2:c.647C>T, NM_001199933.1:c.647C>T, NP_055269.1:p.Thr275Ile, NP_001186863.1:p.Thr150Ile, NP_001186862.1:p.Thr216Ile

Select item 146721777413.

rs1467217774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:108998599 (GRCh38)
6:109319802 (GRCh37)
Canonical SPDI:: NC_000006.12:108998598:A:G
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.108998599A>G, NC_000006.11:g.109319802A>G, NG_029518.1:g.100907T>C, NM_014454.3:c.886T>C, NM_014454.2:c.886T>C, NM_001199934.2:c.511T>C, NM_001199934.1:c.511T>C, NM_001199933.2:c.709T>C, NM_001199933.1:c.709T>C, NP_055269.1:p.Ser296Pro, NP_001186863.1:p.Ser171Pro, NP_001186862.1:p.Ser237Pro

Select item 146125310014.

rs1461253100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:109000531 (GRCh38)
6:109321734 (GRCh37)
Canonical SPDI:: NC_000006.12:109000530:A:G
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.109000531A>G, NC_000006.11:g.109321734A>G, NG_029518.1:g.98975T>C, NM_014454.3:c.689T>C, NM_014454.2:c.689T>C, NM_001199934.2:c.314T>C, NM_001199934.1:c.314T>C, NM_001199933.2:c.512T>C, NM_001199933.1:c.512T>C, NP_055269.1:p.Leu230Ser, NP_001186863.1:p.Leu105Ser, NP_001186862.1:p.Leu171Ser

Select item 145829174315.

rs1458291743 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:108998657 (GRCh38)
6:109319860 (GRCh37)
Canonical SPDI:: NC_000006.12:108998656:GA:
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108998657_108998658del, NC_000006.11:g.109319860_109319861del, NG_029518.1:g.100848_100849del, NM_014454.3:c.827_828del, NM_014454.2:c.827_828del, NM_001199934.2:c.452_453del, NM_001199934.1:c.452_453del, NM_001199933.2:c.650_651del, NM_001199933.1:c.650_651del, NP_055269.1:p.Phe276fs, NP_001186863.1:p.Phe151fs, NP_001186862.1:p.Phe217fs

Select item 145287238216.

rs1452872382 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTTT>- [Show Flanks]
Chromosome:: 6:108994486 (GRCh38)
6:109315689 (GRCh37)
Canonical SPDI:: NC_000006.12:108994484:TCTCTTT:T
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.108994486_108994491del, NC_000006.11:g.109315689_109315694del, NG_029518.1:g.105016_105021del, NM_014454.3:c.1092_1097del, NM_014454.2:c.1092_1097del, NM_001199934.2:c.717_722del, NM_001199934.1:c.717_722del, NM_001199933.2:c.915_920del, NM_001199933.1:c.915_920del, NP_055269.1:p.Arg365_Glu366del, NP_001186863.1:p.Arg240_Glu241del, NP_001186862.1:p.Arg306_Glu307del

Select item 145107459217.

rs1451074592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:108990797 (GRCh38)
6:109312000 (GRCh37)
Canonical SPDI:: NC_000006.12:108990796:A:G
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.108990797A>G, NC_000006.11:g.109312000A>G, NG_029518.1:g.108709T>C, NM_014454.3:c.1272T>C, NM_014454.2:c.1272T>C, NM_001199934.2:c.897T>C, NM_001199934.1:c.897T>C, NM_001199933.2:c.1095T>C, NM_001199933.1:c.1095T>C, XM_011536168.4:c.*1979A>G

Select item 145044943818.

rs1450449438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:109000596 (GRCh38)
6:109321799 (GRCh37)
Canonical SPDI:: NC_000006.12:109000595:C:T
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.109000596C>T, NC_000006.11:g.109321799C>T, NG_029518.1:g.98910G>A, NM_014454.3:c.624G>A, NM_014454.2:c.624G>A, NM_001199934.2:c.249G>A, NM_001199934.1:c.249G>A, NM_001199933.2:c.447G>A, NM_001199933.1:c.447G>A

Select item 144895359819.

rs1448953598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:108988577 (GRCh38)
6:109309780 (GRCh37)
Canonical SPDI:: NC_000006.12:108988576:T:C
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108988577T>C, NC_000006.11:g.109309780T>C, NG_029518.1:g.110929A>G, NM_014454.3:c.1535A>G, NM_014454.2:c.1535A>G, NM_001199934.2:c.1160A>G, NM_001199934.1:c.1160A>G, NM_001199933.2:c.1358A>G, NM_001199933.1:c.1358A>G, NP_055269.1:p.Asp512Gly, NP_001186863.1:p.Asp387Gly, NP_001186862.1:p.Asp453Gly

Select item 144707106920.

rs1447071069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:108998524 (GRCh38)
6:109319727 (GRCh37)
Canonical SPDI:: NC_000006.12:108998523:C:T
Gene:: SESN1 (Varview), ARMC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.108998524C>T, NC_000006.11:g.109319727C>T, NG_029518.1:g.100982G>A, NM_014454.3:c.961G>A, NM_014454.2:c.961G>A, NM_001199934.2:c.586G>A, NM_001199934.1:c.586G>A, NM_001199933.2:c.784G>A, NM_001199933.1:c.784G>A, NP_055269.1:p.Glu321Lys, NP_001186863.1:p.Glu196Lys, NP_001186862.1:p.Glu262Lys

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