SNP Links for Protein (Select 4503893) - SNP

Links from Protein

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Select item 14907637971.

rs1490763797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:57631220 (GRCh38)
12:58025003 (GRCh37)
Canonical SPDI:: NC_000012.12:57631219:C:A,NC_000012.12:57631219:C:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57631220C>A, NC_000012.12:g.57631220C>T, NC_000012.11:g.58025003C>A, NC_000012.11:g.58025003C>T, NG_033849.1:g.7020G>T, NG_033849.1:g.7020G>A, NM_001478.5:c.363G>T, NM_001478.5:c.363G>A, NM_001478.4:c.363G>T, NM_001478.4:c.363G>A, NM_001276469.1:c.363G>T, NM_001276469.1:c.363G>A, NM_001276469.2:c.363G>T, NM_001276469.2:c.363G>A, XM_005268773.6:c.594G>T, XM_005268773.6:c.594G>A, XM_005268773.5:c.363G>T, XM_005268773.5:c.363G>A, XM_005268773.4:c.363G>T, XM_005268773.4:c.363G>A, XM_005268773.3:c.363G>T, XM_005268773.3:c.363G>A, XM_005268773.2:c.363G>T, XM_005268773.2:c.363G>A, XM_005268773.1:c.363G>T, XM_005268773.1:c.363G>A, XM_011538147.4:c.594G>T, XM_011538147.4:c.594G>A, XM_011538147.3:c.363G>T, XM_011538147.3:c.363G>A, XM_011538147.2:c.363G>T, XM_011538147.2:c.363G>A, XM_011538147.1:c.363G>T, XM_011538147.1:c.363G>A, XM_017019140.2:c.363G>T, XM_017019140.2:c.363G>A, XM_017019140.1:c.363G>T, XM_017019140.1:c.363G>A, XM_024448928.2:c.594G>T, XM_024448928.2:c.594G>A, XM_024448928.1:c.363G>T, XM_024448928.1:c.363G>A, XM_017019142.2:c.363G>T, XM_017019142.2:c.363G>A, XM_017019142.1:c.363G>T, XM_017019142.1:c.363G>A, XM_047428680.1:c.594G>T, XM_047428680.1:c.594G>A, XM_047428681.1:c.594G>T, XM_047428681.1:c.594G>A, XM_047428682.1:c.594G>T, XM_047428682.1:c.594G>A, NP_001469.1:p.Glu121Asp, NP_001263398.1:p.Glu121Asp, XP_005268830.2:p.Glu198Asp, XP_011536449.2:p.Glu198Asp, XP_016874629.1:p.Glu121Asp, XP_024304696.2:p.Glu198Asp, XP_016874631.1:p.Glu121Asp, XP_047284636.1:p.Glu198Asp, XP_047284637.1:p.Glu198Asp, XP_047284638.1:p.Glu198Asp

Select item 14894528122.

rs1489452812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57630161 (GRCh38)
12:58023944 (GRCh37)
Canonical SPDI:: NC_000012.12:57630160:C:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57630161C>T, NC_000012.11:g.58023944C>T, NG_033849.1:g.8079G>A, NM_001478.5:c.703G>A, NM_001478.4:c.703G>A, NM_001276468.2:c.538G>A, NM_001276468.1:c.538G>A, NM_001276469.1:c.703G>A, NM_001276469.2:c.703G>A, XM_005268773.6:c.934G>A, XM_005268773.5:c.703G>A, XM_005268773.4:c.703G>A, XM_005268773.3:c.703G>A, XM_005268773.2:c.703G>A, XM_005268773.1:c.703G>A, XM_011538147.4:c.934G>A, XM_011538147.3:c.703G>A, XM_011538147.2:c.703G>A, XM_011538147.1:c.703G>A, XM_017019140.2:c.703G>A, XM_017019140.1:c.703G>A, XM_024448928.2:c.934G>A, XM_024448928.1:c.703G>A, XM_017019142.2:c.703G>A, XM_017019142.1:c.703G>A, XM_047428680.1:c.934G>A, XM_047428681.1:c.934G>A, XM_047428682.1:c.934G>A, NP_001469.1:p.Ala235Thr, NP_001263397.1:p.Ala180Thr, NP_001263398.1:p.Ala235Thr, XP_005268830.2:p.Ala312Thr, XP_011536449.2:p.Ala312Thr, XP_016874629.1:p.Ala235Thr, XP_024304696.2:p.Ala312Thr, XP_016874631.1:p.Ala235Thr, XP_047284636.1:p.Ala312Thr, XP_047284637.1:p.Ala312Thr, XP_047284638.1:p.Ala312Thr

Select item 14881335473.

rs1488133547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57632038 (GRCh38)
12:58025821 (GRCh37)
Canonical SPDI:: NC_000012.12:57632037:C:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.57632038C>T, NC_000012.11:g.58025821C>T, NG_033849.1:g.6202G>A, NM_001478.5:c.95G>A, NM_001478.4:c.95G>A, NM_001276468.2:c.95G>A, NM_001276468.1:c.95G>A, NM_001276469.1:c.95G>A, NM_001276469.2:c.95G>A, XM_005268773.6:c.326G>A, XM_005268773.5:c.95G>A, XM_005268773.4:c.95G>A, XM_005268773.3:c.95G>A, XM_005268773.2:c.95G>A, XM_005268773.1:c.95G>A, XM_011538147.4:c.326G>A, XM_011538147.3:c.95G>A, XM_011538147.2:c.95G>A, XM_011538147.1:c.95G>A, XM_017019140.2:c.95G>A, XM_017019140.1:c.95G>A, XM_024448928.2:c.326G>A, XM_024448928.1:c.95G>A, XM_017019142.2:c.95G>A, XM_017019142.1:c.95G>A, XM_047428680.1:c.326G>A, XM_047428681.1:c.326G>A, XM_047428682.1:c.326G>A, NP_001469.1:p.Gly32Asp, NP_001263397.1:p.Gly32Asp, NP_001263398.1:p.Gly32Asp, XP_005268830.2:p.Gly109Asp, XP_011536449.2:p.Gly109Asp, XP_016874629.1:p.Gly32Asp, XP_024304696.2:p.Gly109Asp, XP_016874631.1:p.Gly32Asp, XP_047284636.1:p.Gly109Asp, XP_047284637.1:p.Gly109Asp, XP_047284638.1:p.Gly109Asp

Select item 14862888704.

rs1486288870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57627820 (GRCh38)
12:58021603 (GRCh37)
Canonical SPDI:: NC_000012.12:57627819:G:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57627820G>T, NC_000012.11:g.58021603G>T, NG_033849.1:g.10420C>A, NM_001478.5:c.1182C>A, NM_001478.4:c.1182C>A, NM_001276468.2:c.1017C>A, NM_001276468.1:c.1017C>A, XM_005268773.6:c.1446C>A, XM_005268773.5:c.1215C>A, XM_005268773.4:c.1215C>A, XM_005268773.3:c.1215C>A, XM_005268773.2:c.1215C>A, XM_005268773.1:c.1215C>A, XM_011538147.4:c.1464C>A, XM_011538147.3:c.1233C>A, XM_011538147.2:c.1233C>A, XM_011538147.1:c.1233C>A, XM_017019140.2:c.1317C>A, XM_017019140.1:c.1317C>A, XM_024448928.2:c.1431C>A, XM_024448928.1:c.1200C>A, XM_017019142.2:c.1182C>A, XM_017019142.1:c.1182C>A, XM_047428680.1:c.1548C>A, XM_047428681.1:c.1413C>A

Select item 14849541915.

rs1484954191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57631952 (GRCh38)
12:58025735 (GRCh37)
Canonical SPDI:: NC_000012.12:57631951:C:G
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57631952C>G, NC_000012.11:g.58025735C>G, NG_033849.1:g.6288G>C, NM_001478.5:c.181G>C, NM_001478.4:c.181G>C, NM_001276468.2:c.181G>C, NM_001276468.1:c.181G>C, NM_001276469.1:c.181G>C, NM_001276469.2:c.181G>C, XM_005268773.6:c.412G>C, XM_005268773.5:c.181G>C, XM_005268773.4:c.181G>C, XM_005268773.3:c.181G>C, XM_005268773.2:c.181G>C, XM_005268773.1:c.181G>C, XM_011538147.4:c.412G>C, XM_011538147.3:c.181G>C, XM_011538147.2:c.181G>C, XM_011538147.1:c.181G>C, XM_017019140.2:c.181G>C, XM_017019140.1:c.181G>C, XM_024448928.2:c.412G>C, XM_024448928.1:c.181G>C, XM_017019142.2:c.181G>C, XM_017019142.1:c.181G>C, XM_047428680.1:c.412G>C, XM_047428681.1:c.412G>C, XM_047428682.1:c.412G>C, NP_001469.1:p.Ala61Pro, NP_001263397.1:p.Ala61Pro, NP_001263398.1:p.Ala61Pro, XP_005268830.2:p.Ala138Pro, XP_011536449.2:p.Ala138Pro, XP_016874629.1:p.Ala61Pro, XP_024304696.2:p.Ala138Pro, XP_016874631.1:p.Ala61Pro, XP_047284636.1:p.Ala138Pro, XP_047284637.1:p.Ala138Pro, XP_047284638.1:p.Ala138Pro

Select item 14840755376.

rs1484075537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57628164 (GRCh38)
12:58021947 (GRCh37)
Canonical SPDI:: NC_000012.12:57628163:C:A
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57628164C>A, NC_000012.11:g.58021947C>A, NG_033849.1:g.10076G>T, NM_001478.5:c.1101G>T, NM_001478.4:c.1101G>T, NM_001276468.2:c.936G>T, NM_001276468.1:c.936G>T, XM_005268773.6:c.1332G>T, XM_005268773.5:c.1101G>T, XM_005268773.4:c.1101G>T, XM_005268773.3:c.1101G>T, XM_005268773.2:c.1101G>T, XM_005268773.1:c.1101G>T, XM_011538147.4:c.1350G>T, XM_011538147.3:c.1119G>T, XM_011538147.2:c.1119G>T, XM_011538147.1:c.1119G>T, XM_017019140.2:c.1236G>T, XM_017019140.1:c.1236G>T, XM_024448928.2:c.1350G>T, XM_024448928.1:c.1119G>T, XM_017019142.2:c.1101G>T, XM_017019142.1:c.1101G>T, XM_047428680.1:c.1467G>T, XM_047428681.1:c.1332G>T, XM_047428682.1:c.1485G>T

Select item 14832523587.

rs1483252358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57630168 (GRCh38)
12:58023951 (GRCh37)
Canonical SPDI:: NC_000012.12:57630167:G:A
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57630168G>A, NC_000012.11:g.58023951G>A, NG_033849.1:g.8072C>T, NM_001478.5:c.696C>T, NM_001478.4:c.696C>T, NM_001276468.2:c.531C>T, NM_001276468.1:c.531C>T, NM_001276469.1:c.696C>T, NM_001276469.2:c.696C>T, XM_005268773.6:c.927C>T, XM_005268773.5:c.696C>T, XM_005268773.4:c.696C>T, XM_005268773.3:c.696C>T, XM_005268773.2:c.696C>T, XM_005268773.1:c.696C>T, XM_011538147.4:c.927C>T, XM_011538147.3:c.696C>T, XM_011538147.2:c.696C>T, XM_011538147.1:c.696C>T, XM_017019140.2:c.696C>T, XM_017019140.1:c.696C>T, XM_024448928.2:c.927C>T, XM_024448928.1:c.696C>T, XM_017019142.2:c.696C>T, XM_017019142.1:c.696C>T, XM_047428680.1:c.927C>T, XM_047428681.1:c.927C>T, XM_047428682.1:c.927C>T

Select item 14826527188.

rs1482652718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57627768 (GRCh38)
12:58021551 (GRCh37)
Canonical SPDI:: NC_000012.12:57627767:A:G
Gene:: B4GALNT1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57627768A>G, NC_000012.11:g.58021551A>G, NG_033849.1:g.10472T>C, NM_001478.5:c.1234T>C, NM_001478.4:c.1234T>C, NM_001276468.2:c.1069T>C, NM_001276468.1:c.1069T>C, XM_005268773.6:c.1498T>C, XM_005268773.5:c.1267T>C, XM_005268773.4:c.1267T>C, XM_005268773.3:c.1267T>C, XM_005268773.2:c.1267T>C, XM_005268773.1:c.1267T>C, XM_011538147.4:c.1516T>C, XM_011538147.3:c.1285T>C, XM_011538147.2:c.1285T>C, XM_011538147.1:c.1285T>C, XM_017019140.2:c.1369T>C, XM_017019140.1:c.1369T>C, XM_024448928.2:c.1483T>C, XM_024448928.1:c.1252T>C, XM_017019142.2:c.1234T>C, XM_017019142.1:c.1234T>C, XM_047428680.1:c.1600T>C, XM_047428681.1:c.1465T>C, NP_001469.1:p.Cys412Arg, NP_001263397.1:p.Cys357Arg, XP_005268830.2:p.Cys500Arg, XP_011536449.2:p.Cys506Arg, XP_016874629.1:p.Cys457Arg, XP_024304696.2:p.Cys495Arg, XP_016874631.1:p.Cys412Arg, XP_047284636.1:p.Cys534Arg, XP_047284637.1:p.Cys489Arg

Select item 14809385659.

rs1480938565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57631326 (GRCh38)
12:58025109 (GRCh37)
Canonical SPDI:: NC_000012.12:57631325:C:G
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57631326C>G, NC_000012.11:g.58025109C>G, NG_033849.1:g.6914G>C, NM_001478.5:c.257G>C, NM_001478.4:c.257G>C, NM_001276469.1:c.257G>C, NM_001276469.2:c.257G>C, XM_005268773.6:c.488G>C, XM_005268773.5:c.257G>C, XM_005268773.4:c.257G>C, XM_005268773.3:c.257G>C, XM_005268773.2:c.257G>C, XM_005268773.1:c.257G>C, XM_011538147.4:c.488G>C, XM_011538147.3:c.257G>C, XM_011538147.2:c.257G>C, XM_011538147.1:c.257G>C, XM_017019140.2:c.257G>C, XM_017019140.1:c.257G>C, XM_024448928.2:c.488G>C, XM_024448928.1:c.257G>C, XM_017019142.2:c.257G>C, XM_017019142.1:c.257G>C, XM_047428680.1:c.488G>C, XM_047428681.1:c.488G>C, XM_047428682.1:c.488G>C, NP_001469.1:p.Gly86Ala, NP_001263398.1:p.Gly86Ala, XP_005268830.2:p.Gly163Ala, XP_011536449.2:p.Gly163Ala, XP_016874629.1:p.Gly86Ala, XP_024304696.2:p.Gly163Ala, XP_016874631.1:p.Gly86Ala, XP_047284636.1:p.Gly163Ala, XP_047284637.1:p.Gly163Ala, XP_047284638.1:p.Gly163Ala

Select item 147980734810.

rs1479807348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57630261 (GRCh38)
12:58024044 (GRCh37)
Canonical SPDI:: NC_000012.12:57630260:C:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57630261C>T, NC_000012.11:g.58024044C>T, NG_033849.1:g.7979G>A, NM_001478.5:c.603G>A, NM_001478.4:c.603G>A, NM_001276468.2:c.438G>A, NM_001276468.1:c.438G>A, NM_001276469.1:c.603G>A, NM_001276469.2:c.603G>A, XM_005268773.6:c.834G>A, XM_005268773.5:c.603G>A, XM_005268773.4:c.603G>A, XM_005268773.3:c.603G>A, XM_005268773.2:c.603G>A, XM_005268773.1:c.603G>A, XM_011538147.4:c.834G>A, XM_011538147.3:c.603G>A, XM_011538147.2:c.603G>A, XM_011538147.1:c.603G>A, XM_017019140.2:c.603G>A, XM_017019140.1:c.603G>A, XM_024448928.2:c.834G>A, XM_024448928.1:c.603G>A, XM_017019142.2:c.603G>A, XM_017019142.1:c.603G>A, XM_047428680.1:c.834G>A, XM_047428681.1:c.834G>A, XM_047428682.1:c.834G>A

Select item 147918148411.

rs1479181484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57632046 (GRCh38)
12:58025829 (GRCh37)
Canonical SPDI:: NC_000012.12:57632045:G:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.57632046G>T, NC_000012.11:g.58025829G>T, NG_033849.1:g.6194C>A, NM_001478.5:c.87C>A, NM_001478.4:c.87C>A, NM_001276468.2:c.87C>A, NM_001276468.1:c.87C>A, NM_001276469.1:c.87C>A, NM_001276469.2:c.87C>A, XM_005268773.6:c.318C>A, XM_005268773.5:c.87C>A, XM_005268773.4:c.87C>A, XM_005268773.3:c.87C>A, XM_005268773.2:c.87C>A, XM_005268773.1:c.87C>A, XM_011538147.4:c.318C>A, XM_011538147.3:c.87C>A, XM_011538147.2:c.87C>A, XM_011538147.1:c.87C>A, XM_017019140.2:c.87C>A, XM_017019140.1:c.87C>A, XM_024448928.2:c.318C>A, XM_024448928.1:c.87C>A, XM_017019142.2:c.87C>A, XM_017019142.1:c.87C>A, XM_047428680.1:c.318C>A, XM_047428681.1:c.318C>A, XM_047428682.1:c.318C>A, NP_001469.1:p.Asp29Glu, NP_001263397.1:p.Asp29Glu, NP_001263398.1:p.Asp29Glu, XP_005268830.2:p.Asp106Glu, XP_011536449.2:p.Asp106Glu, XP_016874629.1:p.Asp29Glu, XP_024304696.2:p.Asp106Glu, XP_016874631.1:p.Asp29Glu, XP_047284636.1:p.Asp106Glu, XP_047284637.1:p.Asp106Glu, XP_047284638.1:p.Asp106Glu

Select item 147797841012.

rs1477978410 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 12:57627815 (GRCh38)
12:58021598 (GRCh37)
Canonical SPDI:: NC_000012.12:57627814:T:
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.57627815del, NC_000012.11:g.58021598del, NG_033849.1:g.10425del, NM_001478.5:c.1187del, NM_001478.4:c.1187del, NM_001276468.2:c.1022del, NM_001276468.1:c.1022del, XM_005268773.6:c.1451del, XM_005268773.5:c.1220del, XM_005268773.4:c.1220del, XM_005268773.3:c.1220del, XM_005268773.2:c.1220del, XM_005268773.1:c.1220del, XM_011538147.4:c.1469del, XM_011538147.3:c.1238del, XM_011538147.2:c.1238del, XM_011538147.1:c.1238del, XM_017019140.2:c.1322del, XM_017019140.1:c.1322del, XM_024448928.2:c.1436del, XM_024448928.1:c.1205del, XM_017019142.2:c.1187del, XM_017019142.1:c.1187del, XM_047428680.1:c.1553del, XM_047428681.1:c.1418del, NP_001469.1:p.Tyr396fs, NP_001263397.1:p.Tyr341fs, XP_005268830.2:p.Tyr484fs, XP_011536449.2:p.Tyr490fs, XP_016874629.1:p.Tyr441fs, XP_024304696.2:p.Tyr479fs, XP_016874631.1:p.Tyr396fs, XP_047284636.1:p.Tyr518fs, XP_047284637.1:p.Tyr473fs

Select item 147494480513.

rs1474944805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57630489 (GRCh38)
12:58024272 (GRCh37)
Canonical SPDI:: NC_000012.12:57630488:C:A
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57630489C>A, NC_000012.11:g.58024272C>A, NG_033849.1:g.7751G>T, NM_001478.5:c.520G>T, NM_001478.4:c.520G>T, NM_001276468.2:c.355G>T, NM_001276468.1:c.355G>T, NM_001276469.1:c.520G>T, NM_001276469.2:c.520G>T, XM_005268773.6:c.751G>T, XM_005268773.5:c.520G>T, XM_005268773.4:c.520G>T, XM_005268773.3:c.520G>T, XM_005268773.2:c.520G>T, XM_005268773.1:c.520G>T, XM_011538147.4:c.751G>T, XM_011538147.3:c.520G>T, XM_011538147.2:c.520G>T, XM_011538147.1:c.520G>T, XM_017019140.2:c.520G>T, XM_017019140.1:c.520G>T, XM_024448928.2:c.751G>T, XM_024448928.1:c.520G>T, XM_017019142.2:c.520G>T, XM_017019142.1:c.520G>T, XM_047428680.1:c.751G>T, XM_047428681.1:c.751G>T, XM_047428682.1:c.751G>T, NP_001469.1:p.Glu174Ter, NP_001263397.1:p.Glu119Ter, NP_001263398.1:p.Glu174Ter, XP_005268830.2:p.Glu251Ter, XP_011536449.2:p.Glu251Ter, XP_016874629.1:p.Glu174Ter, XP_024304696.2:p.Glu251Ter, XP_016874631.1:p.Glu174Ter, XP_047284636.1:p.Glu251Ter, XP_047284637.1:p.Glu251Ter, XP_047284638.1:p.Glu251Ter

Select item 147395787114.

rs1473957871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57628136 (GRCh38)
12:58021919 (GRCh37)
Canonical SPDI:: NC_000012.12:57628135:T:C
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.57628136T>C, NC_000012.11:g.58021919T>C, NG_033849.1:g.10104A>G, NM_001478.5:c.1129A>G, NM_001478.4:c.1129A>G, NM_001276468.2:c.964A>G, NM_001276468.1:c.964A>G, XM_005268773.6:c.1360A>G, XM_005268773.5:c.1129A>G, XM_005268773.4:c.1129A>G, XM_005268773.3:c.1129A>G, XM_005268773.2:c.1129A>G, XM_005268773.1:c.1129A>G, XM_011538147.4:c.1378A>G, XM_011538147.3:c.1147A>G, XM_011538147.2:c.1147A>G, XM_011538147.1:c.1147A>G, XM_017019140.2:c.1264A>G, XM_017019140.1:c.1264A>G, XM_024448928.2:c.1378A>G, XM_024448928.1:c.1147A>G, XM_017019142.2:c.1129A>G, XM_017019142.1:c.1129A>G, XM_047428680.1:c.1495A>G, XM_047428681.1:c.1360A>G, XM_047428682.1:c.1513A>G, NP_001469.1:p.Thr377Ala, NP_001263397.1:p.Thr322Ala, XP_005268830.2:p.Thr454Ala, XP_011536449.2:p.Thr460Ala, XP_016874629.1:p.Thr422Ala, XP_024304696.2:p.Thr460Ala, XP_016874631.1:p.Thr377Ala, XP_047284636.1:p.Thr499Ala, XP_047284637.1:p.Thr454Ala, XP_047284638.1:p.Thr505Ala

Select item 147285971715.

rs1472859717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57629136 (GRCh38)
12:58022919 (GRCh37)
Canonical SPDI:: NC_000012.12:57629135:G:A
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57629136G>A, NC_000012.11:g.58022919G>A, NG_033849.1:g.9104C>T, NM_001478.5:c.723C>T, NM_001478.4:c.723C>T, NM_001276468.2:c.558C>T, NM_001276468.1:c.558C>T, XM_005268773.6:c.954C>T, XM_005268773.5:c.723C>T, XM_005268773.4:c.723C>T, XM_005268773.3:c.723C>T, XM_005268773.2:c.723C>T, XM_005268773.1:c.723C>T, XM_011538147.4:c.972C>T, XM_011538147.3:c.741C>T, XM_011538147.2:c.741C>T, XM_011538147.1:c.741C>T, XM_017019140.2:c.723C>T, XM_017019140.1:c.723C>T, XM_024448928.2:c.972C>T, XM_024448928.1:c.741C>T, XM_017019142.2:c.723C>T, XM_017019142.1:c.723C>T, XM_047428680.1:c.954C>T, XM_047428681.1:c.954C>T, XM_047428682.1:c.972C>T

Select item 147217936816.

rs1472179368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57628140 (GRCh38)
12:58021923 (GRCh37)
Canonical SPDI:: NC_000012.12:57628139:C:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57628140C>T, NC_000012.11:g.58021923C>T, NG_033849.1:g.10100G>A, NM_001478.5:c.1125G>A, NM_001478.4:c.1125G>A, NM_001276468.2:c.960G>A, NM_001276468.1:c.960G>A, XM_005268773.6:c.1356G>A, XM_005268773.5:c.1125G>A, XM_005268773.4:c.1125G>A, XM_005268773.3:c.1125G>A, XM_005268773.2:c.1125G>A, XM_005268773.1:c.1125G>A, XM_011538147.4:c.1374G>A, XM_011538147.3:c.1143G>A, XM_011538147.2:c.1143G>A, XM_011538147.1:c.1143G>A, XM_017019140.2:c.1260G>A, XM_017019140.1:c.1260G>A, XM_024448928.2:c.1374G>A, XM_024448928.1:c.1143G>A, XM_017019142.2:c.1125G>A, XM_017019142.1:c.1125G>A, XM_047428680.1:c.1491G>A, XM_047428681.1:c.1356G>A, XM_047428682.1:c.1509G>A

Select item 147215745417.

rs1472157454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57627724 (GRCh38)
12:58021507 (GRCh37)
Canonical SPDI:: NC_000012.12:57627723:G:A
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57627724G>A, NC_000012.11:g.58021507G>A, NG_033849.1:g.10516C>T, NM_001478.5:c.1278C>T, NM_001478.4:c.1278C>T, NM_001276468.2:c.1113C>T, NM_001276468.1:c.1113C>T, XM_005268773.6:c.1542C>T, XM_005268773.5:c.1311C>T, XM_005268773.4:c.1311C>T, XM_005268773.3:c.1311C>T, XM_005268773.2:c.1311C>T, XM_005268773.1:c.1311C>T, XM_011538147.4:c.1560C>T, XM_011538147.3:c.1329C>T, XM_011538147.2:c.1329C>T, XM_011538147.1:c.1329C>T, XM_017019140.2:c.1413C>T, XM_017019140.1:c.1413C>T, XM_024448928.2:c.1527C>T, XM_024448928.1:c.1296C>T, XM_017019142.2:c.1278C>T, XM_017019142.1:c.1278C>T, XM_047428680.1:c.1644C>T, XM_047428681.1:c.1509C>T

Select item 147176004818.

rs1471760048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57628713 (GRCh38)
12:58022496 (GRCh37)
Canonical SPDI:: NC_000012.12:57628712:C:A
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57628713C>A, NC_000012.11:g.58022496C>A, NG_033849.1:g.9527G>T, NM_001478.5:c.1002G>T, NM_001478.4:c.1002G>T, NM_001276468.2:c.837G>T, NM_001276468.1:c.837G>T, XM_005268773.6:c.1233G>T, XM_005268773.5:c.1002G>T, XM_005268773.4:c.1002G>T, XM_005268773.3:c.1002G>T, XM_005268773.2:c.1002G>T, XM_005268773.1:c.1002G>T, XM_011538147.4:c.1251G>T, XM_011538147.3:c.1020G>T, XM_011538147.2:c.1020G>T, XM_011538147.1:c.1020G>T, XM_017019140.2:c.1002G>T, XM_017019140.1:c.1002G>T, XM_024448928.2:c.1251G>T, XM_024448928.1:c.1020G>T, XM_017019142.2:c.1002G>T, XM_017019142.1:c.1002G>T, XM_047428680.1:c.1233G>T, XM_047428681.1:c.1233G>T, XM_047428682.1:c.1251G>T, NP_001469.1:p.Lys334Asn, NP_001263397.1:p.Lys279Asn, XP_005268830.2:p.Lys411Asn, XP_011536449.2:p.Lys417Asn, XP_016874629.1:p.Lys334Asn, XP_024304696.2:p.Lys417Asn, XP_016874631.1:p.Lys334Asn, XP_047284636.1:p.Lys411Asn, XP_047284637.1:p.Lys411Asn, XP_047284638.1:p.Lys417Asn

Select item 147166883819.

rs1471668838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57627772 (GRCh38)
12:58021555 (GRCh37)
Canonical SPDI:: NC_000012.12:57627771:C:T
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57627772C>T, NC_000012.11:g.58021555C>T, NG_033849.1:g.10468G>A, NM_001478.5:c.1230G>A, NM_001478.4:c.1230G>A, NM_001276468.2:c.1065G>A, NM_001276468.1:c.1065G>A, XM_005268773.6:c.1494G>A, XM_005268773.5:c.1263G>A, XM_005268773.4:c.1263G>A, XM_005268773.3:c.1263G>A, XM_005268773.2:c.1263G>A, XM_005268773.1:c.1263G>A, XM_011538147.4:c.1512G>A, XM_011538147.3:c.1281G>A, XM_011538147.2:c.1281G>A, XM_011538147.1:c.1281G>A, XM_017019140.2:c.1365G>A, XM_017019140.1:c.1365G>A, XM_024448928.2:c.1479G>A, XM_024448928.1:c.1248G>A, XM_017019142.2:c.1230G>A, XM_017019142.1:c.1230G>A, XM_047428680.1:c.1596G>A, XM_047428681.1:c.1461G>A

Select item 146874315920.

rs1468743159 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAAGAGCAGCCGGTGTTTG>- [Show Flanks]
Chromosome:: 12:57626778 (GRCh38)
12:58020561 (GRCh37)
Canonical SPDI:: NC_000012.12:57626763:GCAGCCGGTGTTTGAAGAAGAGCAGCCGGTGTTTG:GCAGCCGGTGTTTG
Gene:: B4GALNT1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.57626778_57626798del, NC_000012.11:g.58020561_58020581del, NG_033849.1:g.11456_11476del, NM_001478.5:c.1562_1582del, NM_001478.4:c.1562_1582del, NM_001276468.2:c.1397_1417del, NM_001276468.1:c.1397_1417del, XM_005268773.6:c.1826_1846del, XM_005268773.5:c.1595_1615del, XM_005268773.4:c.1595_1615del, XM_005268773.3:c.1595_1615del, XM_005268773.2:c.1595_1615del, XM_005268773.1:c.1595_1615del, XM_011538147.4:c.1844_1864del, XM_011538147.3:c.1613_1633del, XM_011538147.2:c.1613_1633del, XM_011538147.1:c.1613_1633del, XM_017019140.2:c.1697_1717del, XM_017019140.1:c.1697_1717del, XM_024448928.2:c.1811_1831del, XM_024448928.1:c.1580_1600del, XM_017019142.2:c.1562_1582del, XM_017019142.1:c.1562_1582del, XM_047428680.1:c.1928_1948del, XM_047428681.1:c.1793_1813del, NP_001469.1:p.Leu521_Leu527del, NP_001263397.1:p.Leu466_Leu472del, XP_005268830.2:p.Leu609_Leu615del, XP_011536449.2:p.Leu615_Leu621del, XP_016874629.1:p.Leu566_Leu572del, XP_024304696.2:p.Leu604_Leu610del, XP_016874631.1:p.Leu521_Leu527del, XP_047284636.1:p.Leu643_Leu649del, XP_047284637.1:p.Leu598_Leu604del

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