SNP Links for Protein (Select 73915100) - SNP

Links from Protein

Items: 1 to 20 of 618

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Select item 14897145761.

rs1489714576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:74750487 (GRCh38)
15:75042828 (GRCh37)
Canonical SPDI:: NC_000015.10:74750486:T:G
Gene:: CYP1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74750487T>G, NC_000015.9:g.75042828T>G, NG_008431.2:g.32946T>G, NM_000761.4:c.749T>G, NM_000761.5:c.749T>G, NM_000761.3:c.749T>G, NG_061543.1:g.6643T>G, NP_000752.2:p.Leu250Arg

Select item 14809972232.

rs1480997223 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 15:74755024 (GRCh38)
15:75047366 (GRCh37)
Canonical SPDI:: NC_000015.10:74755024::AA
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000111/1 (ALFA)
AA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74755024_74755025insAA, NC_000015.9:g.75047365_75047366insAA, NG_008431.2:g.37483_37484insAA, NM_000761.4:c.1487_1488insAA, NM_000761.5:c.1487_1488insAA, NM_000761.3:c.1487_1488insAA, NG_061543.1:g.11180_11181insAA, NP_000752.2:p.Leu497fs

Select item 14774401283.

rs1477440128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:74750187 (GRCh38)
15:75042528 (GRCh37)
Canonical SPDI:: NC_000015.10:74750186:C:A
Gene:: CYP1A2 (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=0.000007/1 (GnomAD)
A=0.00046/8 (TOMMO)
HGVS:: NC_000015.10:g.74750187C>A, NC_000015.9:g.75042528C>A, NG_008431.2:g.32646C>A, NM_000761.4:c.449C>A, NM_000761.5:c.449C>A, NM_000761.3:c.449C>A, NG_061543.1:g.6343C>A, NP_000752.2:p.Ala150Asp

Select item 14771398594.

rs1477139859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:74749761 (GRCh38)
15:75042102 (GRCh37)
Canonical SPDI:: NC_000015.10:74749760:C:A,NC_000015.10:74749760:C:T
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.74749761C>A, NC_000015.10:g.74749761C>T, NC_000015.9:g.75042102C>A, NC_000015.9:g.75042102C>T, NG_008431.2:g.32220C>A, NG_008431.2:g.32220C>T, NM_000761.4:c.23C>A, NM_000761.4:c.23C>T, NM_000761.5:c.23C>A, NM_000761.5:c.23C>T, NM_000761.3:c.23C>A, NM_000761.3:c.23C>T, NG_061543.1:g.5917C>A, NG_061543.1:g.5917C>T, NG_055245.1:g.5431C>A, NG_055245.1:g.5431C>T, NP_000752.2:p.Pro8His, NP_000752.2:p.Pro8Leu

Select item 14769153945.

rs1476915394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74750136 (GRCh38)
15:75042477 (GRCh37)
Canonical SPDI:: NC_000015.10:74750135:G:A
Gene:: CYP1A2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74750136G>A, NC_000015.9:g.75042477G>A, NG_008431.2:g.32595G>A, NM_000761.4:c.398G>A, NM_000761.5:c.398G>A, NM_000761.3:c.398G>A, NG_061543.1:g.6292G>A, NP_000752.2:p.Trp133Ter

Select item 14757901906.

rs1475790190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:74754806 (GRCh38)
15:75047147 (GRCh37)
Canonical SPDI:: NC_000015.10:74754805:C:G,NC_000015.10:74754805:C:T
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.74754806C>G, NC_000015.10:g.74754806C>T, NC_000015.9:g.75047147C>G, NC_000015.9:g.75047147C>T, NG_008431.2:g.37265C>G, NG_008431.2:g.37265C>T, NM_000761.4:c.1269C>G, NM_000761.4:c.1269C>T, NM_000761.5:c.1269C>G, NM_000761.5:c.1269C>T, NM_000761.3:c.1269C>G, NM_000761.3:c.1269C>T, NG_061543.1:g.10962C>G, NG_061543.1:g.10962C>T, NP_000752.2:p.Asp423Glu

Select item 14749770817.

rs1474977081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74751191 (GRCh38)
15:75043532 (GRCh37)
Canonical SPDI:: NC_000015.10:74751190:C:T
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74751191C>T, NC_000015.9:g.75043532C>T, NG_008431.2:g.33650C>T, NM_000761.4:c.834C>T, NM_000761.5:c.834C>T, NM_000761.3:c.834C>T, NG_061543.1:g.7347C>T

Select item 14748995608.

rs1474899560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74753209 (GRCh38)
15:75045550 (GRCh37)
Canonical SPDI:: NC_000015.10:74753208:G:A
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000015.10:g.74753209G>A, NC_000015.9:g.75045550G>A, NG_008431.2:g.35668G>A, NM_000761.4:c.1192G>A, NM_000761.5:c.1192G>A, NM_000761.3:c.1192G>A, NG_061543.1:g.9365G>A, NP_000752.2:p.Gly398Ser

Select item 14727836889.

rs1472783688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:74750266 (GRCh38)
15:75042607 (GRCh37)
Canonical SPDI:: NC_000015.10:74750265:G:A
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000684/2 (KOREAN)
HGVS:: NC_000015.10:g.74750266G>A, NC_000015.9:g.75042607G>A, NG_008431.2:g.32725G>A, NM_000761.4:c.528G>A, NM_000761.5:c.528G>A, NM_000761.3:c.528G>A, NG_061543.1:g.6422G>A

Select item 147190031810.

rs1471900318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:74750005 (GRCh38)
15:75042346 (GRCh37)
Canonical SPDI:: NC_000015.10:74750004:C:T
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.74750005C>T, NC_000015.9:g.75042346C>T, NG_008431.2:g.32464C>T, NM_000761.4:c.267C>T, NM_000761.5:c.267C>T, NM_000761.3:c.267C>T, NG_061543.1:g.6161C>T

Select item 147115904111.

rs1471159041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:74749769 (GRCh38)
15:75042110 (GRCh37)
Canonical SPDI:: NC_000015.10:74749768:G:T
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74749769G>T, NC_000015.9:g.75042110G>T, NG_008431.2:g.32228G>T, NM_000761.4:c.31G>T, NM_000761.5:c.31G>T, NM_000761.3:c.31G>T, NG_061543.1:g.5925G>T, NG_055245.1:g.5439G>T, NP_000752.2:p.Ala11Ser

Select item 146994904012.

rs1469949040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:74754983 (GRCh38)
15:75047324 (GRCh37)
Canonical SPDI:: NC_000015.10:74754982:C:A,NC_000015.10:74754982:C:T
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.74754983C>A, NC_000015.10:g.74754983C>T, NC_000015.9:g.75047324C>A, NC_000015.9:g.75047324C>T, NG_008431.2:g.37442C>A, NG_008431.2:g.37442C>T, NM_000761.4:c.1446C>A, NM_000761.4:c.1446C>T, NM_000761.5:c.1446C>A, NM_000761.5:c.1446C>T, NM_000761.3:c.1446C>A, NM_000761.3:c.1446C>T, NG_061543.1:g.11139C>A, NG_061543.1:g.11139C>T, NP_000752.2:p.Ser482Arg

Select item 146891629413.

rs1468916294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:74754826 (GRCh38)
15:75047167 (GRCh37)
Canonical SPDI:: NC_000015.10:74754825:A:C
Gene:: CYP1A2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74754826A>C, NC_000015.9:g.75047167A>C, NG_008431.2:g.37285A>C, NM_000761.4:c.1289A>C, NM_000761.5:c.1289A>C, NM_000761.3:c.1289A>C, NG_061543.1:g.10982A>C, NP_000752.2:p.Glu430Ala

Select item 146781004914.

rs1467810049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74750363 (GRCh38)
15:75042704 (GRCh37)
Canonical SPDI:: NC_000015.10:74750362:T:C
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.74750363T>C, NC_000015.9:g.75042704T>C, NG_008431.2:g.32822T>C, NM_000761.4:c.625T>C, NM_000761.5:c.625T>C, NM_000761.3:c.625T>C, NG_061543.1:g.6519T>C, NP_000752.2:p.Phe209Leu

Select item 146595005815.

rs1465950058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74749977 (GRCh38)
15:75042318 (GRCh37)
Canonical SPDI:: NC_000015.10:74749976:T:C
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74749977T>C, NC_000015.9:g.75042318T>C, NG_008431.2:g.32436T>C, NM_000761.4:c.239T>C, NM_000761.5:c.239T>C, NM_000761.3:c.239T>C, NG_061543.1:g.6133T>C, NP_000752.2:p.Ile80Thr

Select item 146586010016.

rs1465860100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:74752246 (GRCh38)
15:75044587 (GRCh37)
Canonical SPDI:: NC_000015.10:74752245:A:G
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74752246A>G, NC_000015.9:g.75044587A>G, NG_008431.2:g.34705A>G, NM_000761.4:c.1165A>G, NM_000761.5:c.1165A>G, NM_000761.3:c.1165A>G, NG_061543.1:g.8402A>G, NP_000752.2:p.Ser389Gly

Select item 146544541317.

rs1465445413 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 15:74754936 (GRCh38)
15:75047277 (GRCh37)
Canonical SPDI:: NC_000015.10:74754934:GGAG:G
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.74754936_74754938del, NC_000015.9:g.75047277_75047279del, NG_008431.2:g.37395_37397del, NM_000761.4:c.1399_1401del, NM_000761.5:c.1399_1401del, NM_000761.3:c.1399_1401del, NG_061543.1:g.11092_11094del, NP_000752.2:p.Glu467del

Select item 146510415718.

rs1465104157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:74750319 (GRCh38)
15:75042660 (GRCh37)
Canonical SPDI:: NC_000015.10:74750318:T:C
Gene:: CYP1A2 (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=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000015.10:g.74750319T>C, NC_000015.9:g.75042660T>C, NG_008431.2:g.32778T>C, NM_000761.4:c.581T>C, NM_000761.5:c.581T>C, NM_000761.3:c.581T>C, NG_061543.1:g.6475T>C, NP_000752.2:p.Val194Ala

Select item 145564309919.

rs1455643099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:74754928 (GRCh38)
15:75047269 (GRCh37)
Canonical SPDI:: NC_000015.10:74754927:C:A
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.74754928C>A, NC_000015.9:g.75047269C>A, NG_008431.2:g.37387C>A, NM_000761.4:c.1391C>A, NM_000761.5:c.1391C>A, NM_000761.3:c.1391C>A, NG_061543.1:g.11084C>A, NP_000752.2:p.Ala464Asp

Select item 145389354520.

rs1453893545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:74752135 (GRCh38)
15:75044476 (GRCh37)
Canonical SPDI:: NC_000015.10:74752134:G:A,NC_000015.10:74752134:G:T
Gene:: CYP1A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.74752135G>A, NC_000015.10:g.74752135G>T, NC_000015.9:g.75044476G>A, NC_000015.9:g.75044476G>T, NG_008431.2:g.34594G>A, NG_008431.2:g.34594G>T, NM_000761.4:c.1054G>A, NM_000761.4:c.1054G>T, NM_000761.5:c.1054G>A, NM_000761.5:c.1054G>T, NM_000761.3:c.1054G>A, NM_000761.3:c.1054G>T, NG_061543.1:g.8291G>A, NG_061543.1:g.8291G>T, NP_000752.2:p.Gly352Ser, NP_000752.2:p.Gly352Cys

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