SNP Links for Protein (Select 22165416) - SNP

Links from Protein

Items: 1 to 20 of 489

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Select item 14875199491.

rs1487519949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34647554 (GRCh38)
9:34647551 (GRCh37)
Canonical SPDI:: NC_000009.12:34647553:T:C
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34647554T>C, NC_000009.11:g.34647551T>C, NG_009029.2:g.5966T>C, NM_000155.4:c.315T>C, NM_000155.3:c.315T>C, NG_028966.1:g.370T>C, NM_147131.1:c.315T>C

Select item 14834613552.

rs1483461355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34648362 (GRCh38)
9:34648359 (GRCh37)
Canonical SPDI:: NC_000009.12:34648361:T:C
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34648362T>C, NC_000009.11:g.34648359T>C, NG_009029.2:g.6774T>C, NM_000155.4:c.593T>C, NM_000155.3:c.593T>C, NM_001258332.2:c.266T>C, NM_001258332.1:c.266T>C, NG_028966.1:g.1178T>C, NM_147131.1:c.*338T>C, NM_147132.1:c.338T>C, NP_000146.2:p.Ile198Thr, NP_001245261.1:p.Ile89Thr

Select item 14834093363.

rs1483409336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34649521 (GRCh38)
9:34649518 (GRCh37)
Canonical SPDI:: NC_000009.12:34649520:A:G
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_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_000009.12:g.34649521A>G, NC_000009.11:g.34649518A>G, NG_009029.2:g.7933A>G, NM_000155.4:c.1016A>G, NM_000155.3:c.1016A>G, NM_001258332.2:c.689A>G, NM_001258332.1:c.689A>G, NG_028966.1:g.2337A>G, NM_147131.1:c.*1394A>G, NM_147132.1:c.*905A>G, NP_000146.2:p.Tyr339Cys, NP_001245261.1:p.Tyr230Cys

Select item 14824107584.

rs1482410758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:34647195 (GRCh38)
9:34647192 (GRCh37)
Canonical SPDI:: NC_000009.12:34647194:G:T
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34647195G>T, NC_000009.11:g.34647192G>T, NG_009029.2:g.5607G>T, NM_000155.4:c.189G>T, NM_000155.3:c.189G>T, NM_001258332.2:c.-14G>T, NM_001258332.1:c.-14G>T, NG_028966.1:g.11G>T, NM_147131.1:c.189G>T, NM_147132.1:c.189G>T, NP_000146.2:p.Lys63Asn

Select item 14760902435.

rs1476090243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:34649544 (GRCh38)
9:34649541 (GRCh37)
Canonical SPDI:: NC_000009.12:34649543:A:C
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34649544A>C, NC_000009.11:g.34649541A>C, NG_009029.2:g.7956A>C, NM_000155.4:c.1039A>C, NM_000155.3:c.1039A>C, NM_001258332.2:c.712A>C, NM_001258332.1:c.712A>C, NG_028966.1:g.2360A>C, NM_147131.1:c.*1417A>C, NM_147132.1:c.*928A>C

Select item 14738515116.

rs1473851511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34648142 (GRCh38)
9:34648139 (GRCh37)
Canonical SPDI:: NC_000009.12:34648141:G:A
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34648142G>A, NC_000009.11:g.34648139G>A, NG_009029.2:g.6554G>A, NM_000155.4:c.535G>A, NM_000155.3:c.535G>A, NM_001258332.2:c.208G>A, NM_001258332.1:c.208G>A, NG_028966.1:g.958G>A, NM_147131.1:c.*280G>A, NM_147132.1:c.280G>A, NP_000146.2:p.Gly179Ser, NP_001245261.1:p.Gly70Ser

Select item 14702730087.

rs1470273008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:34648339 (GRCh38)
9:34648336 (GRCh37)
Canonical SPDI:: NC_000009.12:34648338:G:C
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.34648339G>C, NC_000009.11:g.34648336G>C, NG_009029.2:g.6751G>C, NM_000155.4:c.570G>C, NM_000155.3:c.570G>C, NM_001258332.2:c.243G>C, NM_001258332.1:c.243G>C, NG_028966.1:g.1155G>C, NM_147131.1:c.*315G>C, NM_147132.1:c.315G>C, NP_000146.2:p.Trp190Cys, NP_001245261.1:p.Trp81Cys

Select item 14699988258.

rs1469998825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:34646723 (GRCh38)
9:34646720 (GRCh37)
Canonical SPDI:: NC_000009.12:34646722:G:T
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34646723G>T, NC_000009.11:g.34646720G>T, NG_009029.2:g.5135G>T, NM_000155.4:c.19G>T, NM_000155.3:c.19G>T, NM_001258332.2:c.-184G>T, NM_001258332.1:c.-184G>T, NM_147131.1:c.19G>T, NM_147132.1:c.19G>T, NP_000146.2:p.Asp7Tyr

Select item 14674653079.

rs1467465307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34650374 (GRCh38)
9:34650371 (GRCh37)
Canonical SPDI:: NC_000009.12:34650373:A:G
Gene:: GALT (Varview), IL11RA (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34650374A>G, NC_000009.11:g.34650371A>G, NG_009029.2:g.8786A>G, NM_000155.4:c.1065A>G, NM_000155.3:c.1065A>G, NM_001258332.2:c.738A>G, NM_001258332.1:c.738A>G, NG_028966.1:g.3190A>G

Select item 145790954610.

rs1457909546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34649416 (GRCh38)
9:34649413 (GRCh37)
Canonical SPDI:: NC_000009.12:34649415:C:T
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.34649416C>T, NC_000009.11:g.34649413C>T, NG_009029.2:g.7828C>T, NM_000155.4:c.911C>T, NM_000155.3:c.911C>T, NM_001258332.2:c.584C>T, NM_001258332.1:c.584C>T, NG_028966.1:g.2232C>T, NM_147131.1:c.*1289C>T, NM_147132.1:c.*800C>T, NP_000146.2:p.Pro304Leu, NP_001245261.1:p.Pro195Leu

Select item 145354882111.

rs1453548821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34649081 (GRCh38)
9:34649078 (GRCh37)
Canonical SPDI:: NC_000009.12:34649080:G:A
Gene:: GALT (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_000009.12:g.34649081G>A, NC_000009.11:g.34649078G>A, NG_009029.2:g.7493G>A, NM_000155.4:c.904G>A, NM_000155.3:c.904G>A, NM_001258332.2:c.577G>A, NM_001258332.1:c.577G>A, NG_028966.1:g.1897G>A, NM_147131.1:c.*954G>A, NM_147132.1:c.*465G>A, NP_000146.2:p.Gly302Arg, NP_001245261.1:p.Gly193Arg

Select item 145049368512.

rs1450493685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34647127 (GRCh38)
9:34647124 (GRCh37)
Canonical SPDI:: NC_000009.12:34647126:T:C
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34647127T>C, NC_000009.11:g.34647124T>C, NG_009029.2:g.5539T>C, NM_000155.4:c.121T>C, NM_000155.3:c.121T>C, NM_001258332.2:c.-82T>C, NM_001258332.1:c.-82T>C, NM_147131.1:c.121T>C, NM_147132.1:c.121T>C, NP_000146.2:p.Trp41Arg

Select item 144903714313.

rs1449037143 has merged into rs398123179 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAC>- [Show Flanks]
Chromosome:: 9:34647528 (GRCh38)
9:34647525 (GRCh37)
Canonical SPDI:: NC_000009.12:34647525:ACAAC:AC
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_deletion
Clinical significance:: pathogenic,likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: AC=0./0 (ALFA)
-=0.000008/1 (ExAC)
-=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.34647528_34647530del, NC_000009.11:g.34647525_34647527del, NG_009029.2:g.5940_5942del, NM_000155.4:c.289_291del, NM_000155.3:c.289_291del, NG_028966.1:g.344_346del, NM_147131.1:c.289_291del, NP_000146.2:p.Asn97del

Select item 144870120714.

rs1448701207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34648861 (GRCh38)
9:34648858 (GRCh37)
Canonical SPDI:: NC_000009.12:34648860:C:T
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00009/4 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.34648861C>T, NC_000009.11:g.34648858C>T, NG_009029.2:g.7273C>T, NM_000155.4:c.787C>T, NM_000155.3:c.787C>T, NM_001258332.2:c.460C>T, NM_001258332.1:c.460C>T, NG_028966.1:g.1677C>T, NM_147131.1:c.*837C>T, NM_147132.1:c.*348C>T, NP_000146.2:p.Arg263Trp, NP_001245261.1:p.Arg154Trp

Select item 144215593415.

rs1442155934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34647893 (GRCh38)
9:34647890 (GRCh37)
Canonical SPDI:: NC_000009.12:34647892:A:G
Gene:: GALT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34647893A>G, NC_000009.11:g.34647890A>G, NG_009029.2:g.6305A>G, NM_000155.4:c.439A>G, NM_000155.3:c.439A>G, NM_001258332.2:c.112A>G, NM_001258332.1:c.112A>G, NG_028966.1:g.709A>G, NM_147131.1:c.*184A>G, NP_000146.2:p.Ile147Val, NP_001245261.1:p.Ile38Val

Select item 143333137816.

rs1433331378 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 9:34649496 (GRCh38)
9:34649493 (GRCh37)
Canonical SPDI:: NC_000009.12:34649494:CAC:C
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34649496_34649497del, NC_000009.11:g.34649493_34649494del, NG_009029.2:g.7908_7909del, NM_000155.4:c.991_992del, NM_000155.3:c.991_992del, NM_001258332.2:c.664_665del, NM_001258332.1:c.664_665del, NG_028966.1:g.2312_2313del, NM_147131.1:c.*1369_*1370del, NM_147132.1:c.*880_*881del, NP_000146.2:p.Thr331fs, NP_001245261.1:p.Thr222fs

Select item 143286985217.

rs1432869852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34650426 (GRCh38)
9:34650423 (GRCh37)
Canonical SPDI:: NC_000009.12:34650425:A:G
Gene:: GALT (Varview), IL11RA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34650426A>G, NC_000009.11:g.34650423A>G, NG_009029.2:g.8838A>G, NM_000155.4:c.1117A>G, NM_000155.3:c.1117A>G, NM_001258332.2:c.790A>G, NM_001258332.1:c.790A>G, NG_028966.1:g.3242A>G, NP_000146.2:p.Arg373Gly, NP_001245261.1:p.Arg264Gly

Select item 142737581718.

rs1427375817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:34650410 (GRCh38)
9:34650407 (GRCh37)
Canonical SPDI:: NC_000009.12:34650409:C:A
Gene:: GALT (Varview), IL11RA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34650410C>A, NC_000009.11:g.34650407C>A, NG_009029.2:g.8822C>A, NM_000155.4:c.1101C>A, NM_000155.3:c.1101C>A, NM_001258332.2:c.774C>A, NM_001258332.1:c.774C>A, NG_028966.1:g.3226C>A, NP_000146.2:p.His367Gln, NP_001245261.1:p.His258Gln

Select item 142647914319.

rs1426479143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34647175 (GRCh38)
9:34647172 (GRCh37)
Canonical SPDI:: NC_000009.12:34647174:G:A
Gene:: GALT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34647175G>A, NC_000009.11:g.34647172G>A, NG_009029.2:g.5587G>A, NM_000155.4:c.169G>A, NM_000155.3:c.169G>A, NM_001258332.2:c.-34G>A, NM_001258332.1:c.-34G>A, NM_147131.1:c.169G>A, NM_147132.1:c.169G>A, NP_000146.2:p.Val57Met

Select item 142619984120.

rs1426199841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34649422 (GRCh38)
9:34649419 (GRCh37)
Canonical SPDI:: NC_000009.12:34649421:G:A
Gene:: GALT (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)
HGVS:: NC_000009.12:g.34649422G>A, NC_000009.11:g.34649419G>A, NG_009029.2:g.7834G>A, NM_000155.4:c.917G>A, NM_000155.3:c.917G>A, NM_001258332.2:c.590G>A, NM_001258332.1:c.590G>A, NG_028966.1:g.2238G>A, NM_147131.1:c.*1295G>A, NM_147132.1:c.*806G>A, NP_000146.2:p.Gly306Glu, NP_001245261.1:p.Gly197Glu

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