SNP Links for Protein (Select 22027522) - SNP

Links from Protein

Items: 1 to 20 of 372

<< First< Prev

Page of 19

Next >Last >>

Select item 14874643621.

rs1487464362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50191831 (GRCh38)
3:50229264 (GRCh37)
Canonical SPDI:: NC_000003.12:50191830:G:A
Gene:: GNAT1 (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)
HGVS:: NC_000003.12:g.50191831G>A, NC_000003.11:g.50229264G>A, NG_009831.1:g.5222G>A, NM_000172.4:c.106G>A, NM_000172.3:c.106G>A, NM_144499.3:c.106G>A, NM_144499.2:c.106G>A, NP_000163.2:p.Gly36Ser, NP_653082.1:p.Gly36Ser

Select item 14865998262.

rs1486599826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:50194611 (GRCh38)
3:50232044 (GRCh37)
Canonical SPDI:: NC_000003.12:50194610:G:T
Gene:: GNAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50194611G>T, NC_000003.11:g.50232044G>T, NG_009831.1:g.8002G>T, NM_000172.4:c.819G>T, NM_000172.3:c.819G>T, NM_144499.3:c.819G>T, NM_144499.2:c.819G>T, NP_000163.2:p.Lys273Asn, NP_653082.1:p.Lys273Asn

Select item 14862721623.

rs1486272162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:50194170 (GRCh38)
3:50231603 (GRCh37)
Canonical SPDI:: NC_000003.12:50194169:C:G
Gene:: GNAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50194170C>G, NC_000003.11:g.50231603C>G, NG_009831.1:g.7561C>G, NM_000172.4:c.657C>G, NM_000172.3:c.657C>G, NM_144499.3:c.657C>G, NM_144499.2:c.657C>G, NP_000163.2:p.Phe219Leu, NP_653082.1:p.Phe219Leu

Select item 14819509854.

rs1481950985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50194618 (GRCh38)
3:50232051 (GRCh37)
Canonical SPDI:: NC_000003.12:50194617:A:G
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.50194618A>G, NC_000003.11:g.50232051A>G, NG_009831.1:g.8009A>G, NM_000172.4:c.826A>G, NM_000172.3:c.826A>G, NM_144499.3:c.826A>G, NM_144499.2:c.826A>G, NP_000163.2:p.Lys276Glu, NP_653082.1:p.Lys276Glu

Select item 14773940935.

rs1477394093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50191761 (GRCh38)
3:50229194 (GRCh37)
Canonical SPDI:: NC_000003.12:50191760:C:T
Gene:: GNAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.50191761C>T, NC_000003.11:g.50229194C>T, NG_009831.1:g.5152C>T, NM_000172.4:c.36C>T, NM_000172.3:c.36C>T, NM_144499.3:c.36C>T, NM_144499.2:c.36C>T

Select item 14768131486.

rs1476813148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50194547 (GRCh38)
3:50231980 (GRCh37)
Canonical SPDI:: NC_000003.12:50194546:A:G
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50194547A>G, NC_000003.11:g.50231980A>G, NG_009831.1:g.7938A>G, NM_000172.4:c.755A>G, NM_000172.3:c.755A>G, NM_144499.3:c.755A>G, NM_144499.2:c.755A>G, NP_000163.2:p.His252Arg, NP_653082.1:p.His252Arg

Select item 14762936027.

rs1476293602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50194910 (GRCh38)
3:50232343 (GRCh37)
Canonical SPDI:: NC_000003.12:50194909:C:T
Gene:: GNAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50194910C>T, NC_000003.11:g.50232343C>T, NG_009831.1:g.8301C>T, NM_000172.4:c.1008C>T, NM_000172.3:c.1008C>T, NM_144499.3:c.1008C>T, NM_144499.2:c.1008C>T

Select item 14759398468.

rs1475939846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:50194550 (GRCh38)
3:50231983 (GRCh37)
Canonical SPDI:: NC_000003.12:50194549:G:A
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50194550G>A, NC_000003.11:g.50231983G>A, NG_009831.1:g.7941G>A, NM_000172.4:c.758G>A, NM_000172.3:c.758G>A, NM_144499.3:c.758G>A, NM_144499.2:c.758G>A, NP_000163.2:p.Arg253His, NP_653082.1:p.Arg253His

Select item 14747556599.

rs1474755659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:50193782 (GRCh38)
3:50231215 (GRCh37)
Canonical SPDI:: NC_000003.12:50193781:C:A,NC_000003.12:50193781:C:G
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50193782C>A, NC_000003.12:g.50193782C>G, NC_000003.11:g.50231215C>A, NC_000003.11:g.50231215C>G, NG_009831.1:g.7173C>A, NG_009831.1:g.7173C>G, NM_000172.4:c.479C>A, NM_000172.4:c.479C>G, NM_000172.3:c.479C>A, NM_000172.3:c.479C>G, NM_144499.3:c.479C>A, NM_144499.3:c.479C>G, NM_144499.2:c.479C>A, NM_144499.2:c.479C>G, NP_000163.2:p.Thr160Asn, NP_000163.2:p.Thr160Ser, NP_653082.1:p.Thr160Asn, NP_653082.1:p.Thr160Ser

Select item 147051313410.

rs1470513134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:50193810 (GRCh38)
3:50231243 (GRCh37)
Canonical SPDI:: NC_000003.12:50193809:C:G
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50193810C>G, NC_000003.11:g.50231243C>G, NG_009831.1:g.7201C>G, NM_000172.4:c.507C>G, NM_000172.3:c.507C>G, NM_144499.3:c.507C>G, NM_144499.2:c.507C>G, NP_000163.2:p.Asp169Glu, NP_653082.1:p.Asp169Glu

Select item 146932161011.

rs1469321610 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:50194635 (GRCh38)
3:50232068 (GRCh37)
Canonical SPDI:: NC_000003.12:50194633:TCT:T
Gene:: GNAT1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.50194635_50194636del, NC_000003.11:g.50232068_50232069del, NG_009831.1:g.8026_8027del, NM_000172.4:c.843_844del, NM_000172.3:c.843_844del, NM_144499.3:c.843_844del, NM_144499.2:c.843_844del, NP_000163.2:p.Ile281fs, NP_653082.1:p.Ile281fs

Select item 146862265912.

rs1468622659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:50193842 (GRCh38)
3:50231275 (GRCh37)
Canonical SPDI:: NC_000003.12:50193841:T:A
Gene:: GNAT1 (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)
HGVS:: NC_000003.12:g.50193842T>A, NC_000003.11:g.50231275T>A, NG_009831.1:g.7233T>A, NM_000172.4:c.539T>A, NM_000172.3:c.539T>A, NM_144499.3:c.539T>A, NM_144499.2:c.539T>A, NP_000163.2:p.Ile180Asn, NP_653082.1:p.Ile180Asn

Select item 146653954213.

rs1466539542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50193171 (GRCh38)
3:50230604 (GRCh37)
Canonical SPDI:: NC_000003.12:50193170:A:G
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50193171A>G, NC_000003.11:g.50230604A>G, NG_009831.1:g.6562A>G, NM_000172.4:c.145A>G, NM_000172.3:c.145A>G, NM_144499.3:c.145A>G, NM_144499.2:c.145A>G, NP_000163.2:p.Met49Val, NP_653082.1:p.Met49Val

Select item 145935696514.

rs1459356965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:50191743 (GRCh38)
3:50229176 (GRCh37)
Canonical SPDI:: NC_000003.12:50191742:T:A,NC_000003.12:50191742:T:C
Gene:: GNAT1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50191743T>A, NC_000003.12:g.50191743T>C, NC_000003.11:g.50229176T>A, NC_000003.11:g.50229176T>C, NG_009831.1:g.5134T>A, NG_009831.1:g.5134T>C, NM_000172.4:c.18T>A, NM_000172.4:c.18T>C, NM_000172.3:c.18T>A, NM_000172.3:c.18T>C, NM_144499.3:c.18T>A, NM_144499.3:c.18T>C, NM_144499.2:c.18T>A, NM_144499.2:c.18T>C, NP_000163.2:p.Ser6Arg, NP_653082.1:p.Ser6Arg

Select item 145590426315.

rs1455904263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:50193794 (GRCh38)
3:50231227 (GRCh37)
Canonical SPDI:: NC_000003.12:50193793:T:A,NC_000003.12:50193793:T:C
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50193794T>A, NC_000003.12:g.50193794T>C, NC_000003.11:g.50231227T>A, NC_000003.11:g.50231227T>C, NG_009831.1:g.7185T>A, NG_009831.1:g.7185T>C, NM_000172.4:c.491T>A, NM_000172.4:c.491T>C, NM_000172.3:c.491T>A, NM_000172.3:c.491T>C, NM_144499.3:c.491T>A, NM_144499.3:c.491T>C, NM_144499.2:c.491T>A, NM_144499.2:c.491T>C, NP_000163.2:p.Val164Glu, NP_000163.2:p.Val164Ala, NP_653082.1:p.Val164Glu, NP_653082.1:p.Val164Ala

Select item 145370849116.

rs1453708491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50193636 (GRCh38)
3:50231069 (GRCh37)
Canonical SPDI:: NC_000003.12:50193635:A:G
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.50193636A>G, NC_000003.11:g.50231069A>G, NG_009831.1:g.7027A>G, NM_000172.4:c.422A>G, NM_000172.3:c.422A>G, NM_144499.3:c.422A>G, NM_144499.2:c.422A>G, NP_000163.2:p.Glu141Gly, NP_653082.1:p.Glu141Gly

Select item 145363600317.

rs1453636003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:50193579 (GRCh38)
3:50231012 (GRCh37)
Canonical SPDI:: NC_000003.12:50193578:T:G
Gene:: GNAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50193579T>G, NC_000003.11:g.50231012T>G, NG_009831.1:g.6970T>G, NM_000172.4:c.365T>G, NM_000172.3:c.365T>G, NM_144499.3:c.365T>G, NM_144499.2:c.365T>G, NP_000163.2:p.Ile122Ser, NP_653082.1:p.Ile122Ser

Select item 145289315518.

rs1452893155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 3:50193850 (GRCh38)
3:50231283 (GRCh37)
Canonical SPDI:: NC_000003.12:50193849:A:C,NC_000003.12:50193849:A:G
Gene:: GNAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50193850A>C, NC_000003.12:g.50193850A>G, NC_000003.11:g.50231283A>C, NC_000003.11:g.50231283A>G, NG_009831.1:g.7241A>C, NG_009831.1:g.7241A>G, NM_000172.4:c.547A>C, NM_000172.4:c.547A>G, NM_000172.3:c.547A>C, NM_000172.3:c.547A>G, NM_144499.3:c.547A>C, NM_144499.3:c.547A>G, NM_144499.2:c.547A>C, NM_144499.2:c.547A>G, NP_000163.2:p.Thr183Pro, NP_000163.2:p.Thr183Ala, NP_653082.1:p.Thr183Pro, NP_653082.1:p.Thr183Ala

Select item 145168491119.

rs1451684911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:50193328 (GRCh38)
3:50230761 (GRCh37)
Canonical SPDI:: NC_000003.12:50193327:C:G,NC_000003.12:50193327:C:T
Gene:: GNAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50193328C>G, NC_000003.12:g.50193328C>T, NC_000003.11:g.50230761C>G, NC_000003.11:g.50230761C>T, NG_009831.1:g.6719C>G, NG_009831.1:g.6719C>T, NM_000172.4:c.213C>G, NM_000172.4:c.213C>T, NM_000172.3:c.213C>G, NM_000172.3:c.213C>T, NM_144499.3:c.213C>G, NM_144499.3:c.213C>T, NM_144499.2:c.213C>G, NM_144499.2:c.213C>T

Select item 144808507720.

rs1448085077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:50194136 (GRCh38)
3:50231569 (GRCh37)
Canonical SPDI:: NC_000003.12:50194135:T:A
Gene:: GNAT1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.50194136T>A, NC_000003.11:g.50231569T>A, NG_009831.1:g.7527T>A, NM_000172.4:c.623T>A, NM_000172.3:c.623T>A, NM_144499.3:c.623T>A, NM_144499.2:c.623T>A, NP_000163.2:p.Ile208Asn, NP_653082.1:p.Ile208Asn

<< First< Prev

Page of 19

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 372

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity