SNP Links for Protein (Select 1034611288) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 447

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Select item 14906204151.

rs1490620415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174748718 (GRCh38)
2:175613446 (GRCh37)
Canonical SPDI:: NC_000002.12:174748717:G:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.174748718G>A, NC_000002.11:g.175613446G>A, NG_008172.1:g.20755C>T, NM_000079.4:c.1104C>T, NM_000079.3:c.1104C>T, NM_001039523.3:c.1179C>T, NM_001039523.2:c.1179C>T, XM_017003256.2:c.1200C>T, XM_017003256.1:c.1200C>T, XM_017003257.2:c.1125C>T, XM_017003257.1:c.1125C>T

Select item 14893930782.

rs1489393078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:174757620 (GRCh38)
2:175622348 (GRCh37)
Canonical SPDI:: NC_000002.12:174757619:T:C
Gene:: CHRNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174757620T>C, NC_000002.11:g.175622348T>C, NG_008172.1:g.11853A>G, NM_000079.4:c.290A>G, NM_000079.3:c.290A>G, NM_001039523.3:c.365A>G, NM_001039523.2:c.365A>G, XM_017003256.2:c.386A>G, XM_017003256.1:c.386A>G, XM_017003257.2:c.311A>G, XM_017003257.1:c.311A>G, NP_000070.1:p.Lys97Arg, NP_001034612.1:p.Lys122Arg, XP_016858745.1:p.Lys129Arg, XP_016858746.1:p.Lys104Arg

Select item 14878658253.

rs1487865825 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:174759356 (GRCh38)
2:175624084 (GRCh37)
Canonical SPDI:: NC_000002.12:174759355:A:G
Gene:: CHRNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174759356A>G, NC_000002.11:g.175624084A>G, NG_008172.1:g.10117T>C, NM_000079.4:c.209T>C, NM_000079.3:c.209T>C, NM_001039523.3:c.209T>C, NM_001039523.2:c.209T>C, XM_017003256.2:c.230T>C, XM_017003256.1:c.230T>C, XM_017003257.2:c.230T>C, XM_017003257.1:c.230T>C, NP_000070.1:p.Val70Ala, NP_001034612.1:p.Val70Ala, XP_016858745.1:p.Val77Ala, XP_016858746.1:p.Val77Ala

Select item 14874493484.

rs1487449348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:174754229 (GRCh38)
2:175618957 (GRCh37)
Canonical SPDI:: NC_000002.12:174754228:G:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.174754229G>T, NC_000002.11:g.175618957G>T, NG_008172.1:g.15244C>A, NM_000079.4:c.530C>A, NM_000079.3:c.530C>A, NM_001039523.3:c.605C>A, NM_001039523.2:c.605C>A, XM_017003256.2:c.626C>A, XM_017003256.1:c.626C>A, XM_017003257.2:c.551C>A, XM_017003257.1:c.551C>A, NP_000070.1:p.Ala177Asp, NP_001034612.1:p.Ala202Asp, XP_016858745.1:p.Ala209Asp, XP_016858746.1:p.Ala184Asp

Select item 14869377485.

rs1486937748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174754340 (GRCh38)
2:175619068 (GRCh37)
Canonical SPDI:: NC_000002.12:174754339:G:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174754340G>A, NC_000002.11:g.175619068G>A, NG_008172.1:g.15133C>T, NM_000079.4:c.419C>T, NM_000079.3:c.419C>T, NM_001039523.3:c.494C>T, NM_001039523.2:c.494C>T, XM_017003256.2:c.515C>T, XM_017003256.1:c.515C>T, XM_017003257.2:c.440C>T, XM_017003257.1:c.440C>T, NP_000070.1:p.Pro140Leu, NP_001034612.1:p.Pro165Leu, XP_016858745.1:p.Pro172Leu, XP_016858746.1:p.Pro147Leu

Select item 14863926356.

rs1486392635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:174754373 (GRCh38)
2:175619101 (GRCh37)
Canonical SPDI:: NC_000002.12:174754372:A:G
Gene:: CHRNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.174754373A>G, NC_000002.11:g.175619101A>G, NG_008172.1:g.15100T>C, NM_000079.4:c.386T>C, NM_000079.3:c.386T>C, NM_001039523.3:c.461T>C, NM_001039523.2:c.461T>C, XM_017003256.2:c.482T>C, XM_017003256.1:c.482T>C, XM_017003257.2:c.407T>C, XM_017003257.1:c.407T>C, NP_000070.1:p.Leu129Pro, NP_001034612.1:p.Leu154Pro, XP_016858745.1:p.Leu161Pro, XP_016858746.1:p.Leu136Pro

Select item 14815760007.

rs1481576000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:174753699 (GRCh38)
2:175618427 (GRCh37)
Canonical SPDI:: NC_000002.12:174753698:C:A,NC_000002.12:174753698:C:G
Gene:: CHRNA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.174753699C>A, NC_000002.12:g.174753699C>G, NC_000002.11:g.175618427C>A, NC_000002.11:g.175618427C>G, NG_008172.1:g.15774G>T, NG_008172.1:g.15774G>C, NM_000079.4:c.582G>T, NM_000079.4:c.582G>C, NM_000079.3:c.582G>T, NM_000079.3:c.582G>C, NM_001039523.3:c.657G>T, NM_001039523.3:c.657G>C, NM_001039523.2:c.657G>T, NM_001039523.2:c.657G>C, XM_017003256.2:c.678G>T, XM_017003256.2:c.678G>C, XM_017003256.1:c.678G>T, XM_017003256.1:c.678G>C, XM_017003257.2:c.603G>T, XM_017003257.2:c.603G>C, XM_017003257.1:c.603G>T, XM_017003257.1:c.603G>C

Select item 14811868108.

rs1481186810 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:174759557 (GRCh38)
2:175624285 (GRCh37)
Canonical SPDI:: NC_000002.12:174759556:CC:C
Gene:: CHRNA1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174759558del, NC_000002.11:g.175624286del, NG_008172.1:g.9916del, NM_000079.4:c.120del, NM_000079.3:c.120del, NM_001039523.3:c.120del, NM_001039523.2:c.120del, XM_017003256.2:c.141del, XM_017003256.1:c.141del, XM_017003257.2:c.141del, XM_017003257.1:c.141del, NP_000070.1:p.Pro41fs, NP_001034612.1:p.Pro41fs, XP_016858745.1:p.Pro48fs, XP_016858746.1:p.Pro48fs

Select item 14797957149.

rs1479795714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:174748180 (GRCh38)
2:175612908 (GRCh37)
Canonical SPDI:: NC_000002.12:174748179:T:C
Gene:: CHRNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.174748180T>C, NC_000002.11:g.175612908T>C, NG_008172.1:g.21293A>G, NM_000079.4:c.1318A>G, NM_000079.3:c.1318A>G, NM_001039523.3:c.1393A>G, NM_001039523.2:c.1393A>G, XM_017003256.2:c.1414A>G, XM_017003256.1:c.1414A>G, XM_017003257.2:c.1339A>G, XM_017003257.1:c.1339A>G, NP_000070.1:p.Ile440Val, NP_001034612.1:p.Ile465Val, XP_016858745.1:p.Ile472Val, XP_016858746.1:p.Ile447Val

Select item 147740162410.

rs1477401624 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:174754318 (GRCh38)
2:175619046 (GRCh37)
Canonical SPDI:: NC_000002.12:174754317:G:
Gene:: CHRNA1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.174754318del, NC_000002.11:g.175619046del, NG_008172.1:g.15155del, NM_000079.4:c.441del, NM_000079.3:c.441del, NM_001039523.3:c.516del, NM_001039523.2:c.516del, XM_017003256.2:c.537del, XM_017003256.1:c.537del, XM_017003257.2:c.462del, XM_017003257.1:c.462del, NP_000070.1:p.Cys148fs, NP_001034612.1:p.Cys173fs, XP_016858745.1:p.Cys180fs, XP_016858746.1:p.Cys155fs

Select item 147710784311.

rs1477107843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:174759662 (GRCh38)
2:175624390 (GRCh37)
Canonical SPDI:: NC_000002.12:174759661:C:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.174759662C>T, NC_000002.11:g.175624390C>T, NG_008172.1:g.9811G>A, XM_017003256.2:c.36G>A, XM_017003256.1:c.36G>A, XM_017003257.2:c.36G>A, XM_017003257.1:c.36G>A

Select item 147645395512.

rs1476453955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:174757593 (GRCh38)
2:175622321 (GRCh37)
Canonical SPDI:: NC_000002.12:174757592:C:A,NC_000002.12:174757592:C:T
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Clinical significance:: pathogenic-likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00014/3 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.174757593C>A, NC_000002.12:g.174757593C>T, NC_000002.11:g.175622321C>A, NC_000002.11:g.175622321C>T, NG_008172.1:g.11880G>T, NG_008172.1:g.11880G>A, NM_000079.4:c.317G>T, NM_000079.4:c.317G>A, NM_000079.3:c.317G>T, NM_000079.3:c.317G>A, NM_001039523.3:c.392G>T, NM_001039523.3:c.392G>A, NM_001039523.2:c.392G>T, NM_001039523.2:c.392G>A, XM_017003256.2:c.413G>T, XM_017003256.2:c.413G>A, XM_017003256.1:c.413G>T, XM_017003256.1:c.413G>A, XM_017003257.2:c.338G>T, XM_017003257.2:c.338G>A, XM_017003257.1:c.338G>T, XM_017003257.1:c.338G>A, NP_000070.1:p.Trp106Leu, NP_000070.1:p.Trp106Ter, NP_001034612.1:p.Trp131Leu, NP_001034612.1:p.Trp131Ter, XP_016858745.1:p.Trp138Leu, XP_016858745.1:p.Trp138Ter, XP_016858746.1:p.Trp113Leu, XP_016858746.1:p.Trp113Ter

Select item 147415732513.

rs1474157325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:174748604 (GRCh38)
2:175613332 (GRCh37)
Canonical SPDI:: NC_000002.12:174748603:C:G
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.174748604C>G, NC_000002.11:g.175613332C>G, NG_008172.1:g.20869G>C, NM_000079.4:c.1218G>C, NM_000079.3:c.1218G>C, NM_001039523.3:c.1293G>C, NM_001039523.2:c.1293G>C, XM_017003256.2:c.1314G>C, XM_017003256.1:c.1314G>C, XM_017003257.2:c.1239G>C, XM_017003257.1:c.1239G>C, NP_000070.1:p.Met406Ile, NP_001034612.1:p.Met431Ile, XP_016858745.1:p.Met438Ile, XP_016858746.1:p.Met413Ile

Select item 147008860314.

rs1470088603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:174748127 (GRCh38)
2:175612855 (GRCh37)
Canonical SPDI:: NC_000002.12:174748126:T:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174748127T>A, NC_000002.11:g.175612855T>A, NG_008172.1:g.21346A>T, NM_000079.4:c.1371A>T, NM_000079.3:c.1371A>T, NM_001039523.3:c.1446A>T, NM_001039523.2:c.1446A>T, XM_017003256.2:c.1467A>T, XM_017003256.1:c.1467A>T, XM_017003257.2:c.1392A>T, XM_017003257.1:c.1392A>T

Select item 146589735015.

rs1465897350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:174759684 (GRCh38)
2:175624412 (GRCh37)
Canonical SPDI:: NC_000002.12:174759683:A:G
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174759684A>G, NC_000002.11:g.175624412A>G, NG_008172.1:g.9789T>C, XM_017003256.2:c.14T>C, XM_017003256.1:c.14T>C, XM_017003257.2:c.14T>C, XM_017003257.1:c.14T>C, XP_016858745.1:p.Leu5Ser, XP_016858746.1:p.Leu5Ser

Select item 146514243216.

rs1465142432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174753655 (GRCh38)
2:175618383 (GRCh37)
Canonical SPDI:: NC_000002.12:174753654:G:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174753655G>A, NC_000002.11:g.175618383G>A, NG_008172.1:g.15818C>T, NM_000079.4:c.626C>T, NM_000079.3:c.626C>T, NM_001039523.3:c.701C>T, NM_001039523.2:c.701C>T, XM_017003256.2:c.722C>T, XM_017003256.1:c.722C>T, XM_017003257.2:c.647C>T, XM_017003257.1:c.647C>T, NP_000070.1:p.Thr209Ile, NP_001034612.1:p.Thr234Ile, XP_016858745.1:p.Thr241Ile, XP_016858746.1:p.Thr216Ile

Select item 146485520217.

rs1464855202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:174757604 (GRCh38)
2:175622332 (GRCh37)
Canonical SPDI:: NC_000002.12:174757603:T:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174757604T>A, NC_000002.11:g.175622332T>A, NG_008172.1:g.11869A>T, NM_000079.4:c.306A>T, NM_000079.3:c.306A>T, NM_001039523.3:c.381A>T, NM_001039523.2:c.381A>T, XM_017003256.2:c.402A>T, XM_017003256.1:c.402A>T, XM_017003257.2:c.327A>T, XM_017003257.1:c.327A>T

Select item 145861437418.

rs1458614374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174748614 (GRCh38)
2:175613342 (GRCh37)
Canonical SPDI:: NC_000002.12:174748613:G:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174748614G>A, NC_000002.11:g.175613342G>A, NG_008172.1:g.20859C>T, NM_000079.4:c.1208C>T, NM_000079.3:c.1208C>T, NM_001039523.3:c.1283C>T, NM_001039523.2:c.1283C>T, XM_017003256.2:c.1304C>T, XM_017003256.1:c.1304C>T, XM_017003257.2:c.1229C>T, XM_017003257.1:c.1229C>T, NP_000070.1:p.Ala403Val, NP_001034612.1:p.Ala428Val, XP_016858745.1:p.Ala435Val, XP_016858746.1:p.Ala410Val

Select item 145520178619.

rs1455201786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:174753560 (GRCh38)
2:175618288 (GRCh37)
Canonical SPDI:: NC_000002.12:174753559:G:A
Gene:: CHRNA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.174753560G>A, NC_000002.11:g.175618288G>A, NG_008172.1:g.15913C>T, NM_000079.4:c.721C>T, NM_000079.3:c.721C>T, NM_001039523.3:c.796C>T, NM_001039523.2:c.796C>T, XM_017003256.2:c.817C>T, XM_017003256.1:c.817C>T, XM_017003257.2:c.742C>T, XM_017003257.1:c.742C>T, NP_000070.1:p.Pro241Ser, NP_001034612.1:p.Pro266Ser, XP_016858745.1:p.Pro273Ser, XP_016858746.1:p.Pro248Ser

Select item 144507895520.

rs1445078955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:174748194 (GRCh38)
2:175612923 (GRCh37)
Canonical SPDI:: NC_000002.12:174748194:T:TT
Gene:: CHRNA1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000002.12:g.174748195dup, NC_000002.11:g.175612923dup, NG_008172.1:g.21278dup, NM_000079.4:c.1303dup, NM_000079.3:c.1303dup, NM_001039523.3:c.1378dup, NM_001039523.2:c.1378dup, XM_017003256.2:c.1399dup, XM_017003256.1:c.1399dup, XM_017003257.2:c.1324dup, XM_017003257.1:c.1324dup, NP_000070.1:p.Met435fs, NP_001034612.1:p.Met460fs, XP_016858745.1:p.Met467fs, XP_016858746.1:p.Met442fs

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