SNP Links for Protein (Select 110227603) - SNP

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Links from Protein

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Select item 14895578241.

rs1489557824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42565531 (GRCh38)
17:40717549 (GRCh37)
Canonical SPDI:: NC_000017.11:42565530:T:C
Gene:: MLX (Varview), COASY (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42565531T>C, NC_000017.10:g.40717549T>C, NG_029442.1:g.3472T>C, NG_034110.1:g.8458T>C, NM_025233.7:c.1448T>C, NM_025233.6:c.1448T>C, NM_001042532.4:c.1535T>C, NM_001042532.3:c.1535T>C, NM_001042529.3:c.1448T>C, NM_001042529.2:c.1448T>C, XM_006722116.5:c.1535T>C, XM_006722116.4:c.1535T>C, XM_006722116.3:c.1535T>C, XM_006722116.2:c.1535T>C, XM_006722116.1:c.1535T>C, XM_011525300.2:c.1448T>C, XM_011525300.1:c.1448T>C, NM_001042530.1:c.1448T>C, NM_001042531.1:c.563T>C, NP_079509.5:p.Val483Ala, NP_001035997.2:p.Val512Ala, NP_001035994.1:p.Val483Ala, XP_006722179.1:p.Val512Ala, XP_011523602.1:p.Val483Ala

Select item 14871469322.

rs1487146932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42563116 (GRCh38)
17:40715134 (GRCh37)
Canonical SPDI:: NC_000017.11:42563115:C:A
Gene:: COASY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42563116C>A, NC_000017.10:g.40715134C>A, NG_029442.1:g.1057C>A, NG_034110.1:g.6043C>A, NM_025233.7:c.494C>A, NM_025233.6:c.494C>A, NM_001042532.4:c.581C>A, NM_001042532.3:c.581C>A, NM_001042529.3:c.494C>A, NM_001042529.2:c.494C>A, XM_006722116.5:c.581C>A, XM_006722116.4:c.581C>A, XM_006722116.3:c.581C>A, XM_006722116.2:c.581C>A, XM_006722116.1:c.581C>A, XM_011525300.2:c.494C>A, XM_011525300.1:c.494C>A, NM_001042530.1:c.494C>A, XM_047436849.1:c.494C>A, NM_001042531.1:c.-392C>A, XM_047436850.1:c.494C>A, NP_079509.5:p.Pro165His, NP_001035997.2:p.Pro194His, NP_001035994.1:p.Pro165His, XP_006722179.1:p.Pro194His, XP_011523602.1:p.Pro165His, XP_047292805.1:p.Pro165His, XP_047292806.1:p.Pro165His

Select item 14851524733.

rs1485152473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42563191 (GRCh38)
17:40715209 (GRCh37)
Canonical SPDI:: NC_000017.11:42563190:G:A
Gene:: COASY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42563191G>A, NC_000017.10:g.40715209G>A, NG_029442.1:g.1132G>A, NG_034110.1:g.6118G>A, NM_025233.7:c.569G>A, NM_025233.6:c.569G>A, NM_001042532.4:c.656G>A, NM_001042532.3:c.656G>A, NM_001042529.3:c.569G>A, NM_001042529.2:c.569G>A, XM_006722116.5:c.656G>A, XM_006722116.4:c.656G>A, XM_006722116.3:c.656G>A, XM_006722116.2:c.656G>A, XM_006722116.1:c.656G>A, XM_011525300.2:c.569G>A, XM_011525300.1:c.569G>A, NM_001042530.1:c.569G>A, XM_047436849.1:c.569G>A, NM_001042531.1:c.-317G>A, XM_047436850.1:c.569G>A, NP_079509.5:p.Gly190Asp, NP_001035997.2:p.Gly219Asp, NP_001035994.1:p.Gly190Asp, XP_006722179.1:p.Gly219Asp, XP_011523602.1:p.Gly190Asp, XP_047292805.1:p.Gly190Asp, XP_047292806.1:p.Gly190Asp

Select item 14844576634.

rs1484457663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42562788 (GRCh38)
17:40714806 (GRCh37)
Canonical SPDI:: NC_000017.11:42562787:A:C
Gene:: COASY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42562788A>C, NC_000017.10:g.40714806A>C, NG_029442.1:g.729A>C, NG_034110.1:g.5715A>C, NM_025233.7:c.166A>C, NM_025233.6:c.166A>C, NM_001042532.4:c.253A>C, NM_001042532.3:c.253A>C, NM_001042529.3:c.166A>C, NM_001042529.2:c.166A>C, XM_006722116.5:c.253A>C, XM_006722116.4:c.253A>C, XM_006722116.3:c.253A>C, XM_006722116.2:c.253A>C, XM_006722116.1:c.253A>C, XM_011525300.2:c.166A>C, XM_011525300.1:c.166A>C, NM_001042530.1:c.166A>C, XM_047436849.1:c.166A>C, XM_047436850.1:c.166A>C, NP_079509.5:p.Ser56Arg, NP_001035997.2:p.Ser85Arg, NP_001035994.1:p.Ser56Arg, XP_006722179.1:p.Ser85Arg, XP_011523602.1:p.Ser56Arg, XP_047292805.1:p.Ser56Arg, XP_047292806.1:p.Ser56Arg

Select item 14816936995.

rs1481693699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42565772 (GRCh38)
17:40717790 (GRCh37)
Canonical SPDI:: NC_000017.11:42565771:C:A
Gene:: MLX (Varview), COASY (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42565772C>A, NC_000017.10:g.40717790C>A, NG_029442.1:g.3713C>A, NG_034110.1:g.8699C>A, NM_025233.7:c.1599C>A, NM_025233.6:c.1599C>A, NM_001042532.4:c.1686C>A, NM_001042532.3:c.1686C>A, NM_001042529.3:c.1599C>A, NM_001042529.2:c.1599C>A, XM_006722116.5:c.1686C>A, XM_006722116.4:c.1686C>A, XM_006722116.3:c.1686C>A, XM_006722116.2:c.1686C>A, XM_006722116.1:c.1686C>A, XM_011525300.2:c.1599C>A, XM_011525300.1:c.1599C>A, NM_001042530.1:c.1599C>A, XM_047436849.1:c.*153C>A, NM_001042531.1:c.714C>A, NP_079509.5:p.Ser533Arg, NP_001035997.2:p.Ser562Arg, NP_001035994.1:p.Ser533Arg, XP_006722179.1:p.Ser562Arg, XP_011523602.1:p.Ser533Arg

Select item 14800585746.

rs1480058574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42565926 (GRCh38)
17:40717944 (GRCh37)
Canonical SPDI:: NC_000017.11:42565925:C:T
Gene:: MLX (Varview), COASY (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42565926C>T, NC_000017.10:g.40717944C>T, NG_029442.1:g.3867C>T, NG_034110.1:g.8853C>T, NM_025233.7:c.1653C>T, NM_025233.6:c.1653C>T, NM_001042532.4:c.1740C>T, NM_001042532.3:c.1740C>T, NM_001042529.3:c.1653C>T, NM_001042529.2:c.1653C>T, XM_006722116.5:c.1740C>T, XM_006722116.4:c.1740C>T, XM_006722116.3:c.1740C>T, XM_006722116.2:c.1740C>T, XM_006722116.1:c.1740C>T, XM_011525300.2:c.1653C>T, XM_011525300.1:c.1653C>T, NM_001042530.1:c.1653C>T, NM_001042531.1:c.768C>T

Select item 14793289567.

rs1479328956 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42565563 (GRCh38)
17:40717581 (GRCh37)
Canonical SPDI:: NC_000017.11:42565562:A:C
Gene:: MLX (Varview), COASY (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42565563A>C, NC_000017.10:g.40717581A>C, NG_029442.1:g.3504A>C, NG_034110.1:g.8490A>C, NM_025233.7:c.1480A>C, NM_025233.6:c.1480A>C, NM_001042532.4:c.1567A>C, NM_001042532.3:c.1567A>C, NM_001042529.3:c.1480A>C, NM_001042529.2:c.1480A>C, XM_006722116.5:c.1567A>C, XM_006722116.4:c.1567A>C, XM_006722116.3:c.1567A>C, XM_006722116.2:c.1567A>C, XM_006722116.1:c.1567A>C, XM_011525300.2:c.1480A>C, XM_011525300.1:c.1480A>C, NM_001042530.1:c.1480A>C, NM_001042531.1:c.595A>C, NP_079509.5:p.Thr494Pro, NP_001035997.2:p.Thr523Pro, NP_001035994.1:p.Thr494Pro, XP_006722179.1:p.Thr523Pro, XP_011523602.1:p.Thr494Pro

Select item 14792215858.

rs1479221585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:42564718 (GRCh38)
17:40716736 (GRCh37)
Canonical SPDI:: NC_000017.11:42564717:G:A,NC_000017.11:42564717:G:C
Gene:: COASY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42564718G>A, NC_000017.11:g.42564718G>C, NC_000017.10:g.40716736G>A, NC_000017.10:g.40716736G>C, NG_029442.1:g.2659G>A, NG_029442.1:g.2659G>C, NG_034110.1:g.7645G>A, NG_034110.1:g.7645G>C, NM_025233.7:c.1057G>A, NM_025233.7:c.1057G>C, NM_025233.6:c.1057G>A, NM_025233.6:c.1057G>C, NM_001042532.4:c.1144G>A, NM_001042532.4:c.1144G>C, NM_001042532.3:c.1144G>A, NM_001042532.3:c.1144G>C, NM_001042529.3:c.1057G>A, NM_001042529.3:c.1057G>C, NM_001042529.2:c.1057G>A, NM_001042529.2:c.1057G>C, XM_006722116.5:c.1144G>A, XM_006722116.5:c.1144G>C, XM_006722116.4:c.1144G>A, XM_006722116.4:c.1144G>C, XM_006722116.3:c.1144G>A, XM_006722116.3:c.1144G>C, XM_006722116.2:c.1144G>A, XM_006722116.2:c.1144G>C, XM_006722116.1:c.1144G>A, XM_006722116.1:c.1144G>C, XM_011525300.2:c.1057G>A, XM_011525300.2:c.1057G>C, XM_011525300.1:c.1057G>A, XM_011525300.1:c.1057G>C, NM_001042530.1:c.1057G>A, NM_001042530.1:c.1057G>C, XM_047436849.1:c.1057G>A, XM_047436849.1:c.1057G>C, NM_001042531.1:c.172G>A, NM_001042531.1:c.172G>C, NP_079509.5:p.Glu353Lys, NP_079509.5:p.Glu353Gln, NP_001035997.2:p.Glu382Lys, NP_001035997.2:p.Glu382Gln, NP_001035994.1:p.Glu353Lys, NP_001035994.1:p.Glu353Gln, XP_006722179.1:p.Glu382Lys, XP_006722179.1:p.Glu382Gln, XP_011523602.1:p.Glu353Lys, XP_011523602.1:p.Glu353Gln, XP_047292805.1:p.Glu353Lys, XP_047292805.1:p.Glu353Gln

Select item 14787565719.

rs1478756571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:42564480 (GRCh38)
17:40716498 (GRCh37)
Canonical SPDI:: NC_000017.11:42564479:T:A
Gene:: COASY (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_000017.11:g.42564480T>A, NC_000017.10:g.40716498T>A, NG_029442.1:g.2421T>A, NG_034110.1:g.7407T>A, NM_025233.7:c.950T>A, NM_025233.6:c.950T>A, NM_001042532.4:c.1037T>A, NM_001042532.3:c.1037T>A, NM_001042529.3:c.950T>A, NM_001042529.2:c.950T>A, XM_006722116.5:c.1037T>A, XM_006722116.4:c.1037T>A, XM_006722116.3:c.1037T>A, XM_006722116.2:c.1037T>A, XM_006722116.1:c.1037T>A, XM_011525300.2:c.950T>A, XM_011525300.1:c.950T>A, NM_001042530.1:c.950T>A, XM_047436849.1:c.950T>A, NM_001042531.1:c.65T>A, XM_047436850.1:c.950T>A, NP_079509.5:p.Leu317Gln, NP_001035997.2:p.Leu346Gln, NP_001035994.1:p.Leu317Gln, XP_006722179.1:p.Leu346Gln, XP_011523602.1:p.Leu317Gln, XP_047292805.1:p.Leu317Gln, XP_047292806.1:p.Leu317Gln

Select item 147710392110.

rs1477103921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42565248 (GRCh38)
17:40717266 (GRCh37)
Canonical SPDI:: NC_000017.11:42565247:G:C
Gene:: MLX (Varview), COASY (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42565248G>C, NC_000017.10:g.40717266G>C, NG_029442.1:g.3189G>C, NG_034110.1:g.8175G>C, NM_025233.7:c.1324G>C, NM_025233.6:c.1324G>C, NM_001042532.4:c.1411G>C, NM_001042532.3:c.1411G>C, NM_001042529.3:c.1324G>C, NM_001042529.2:c.1324G>C, XM_006722116.5:c.1411G>C, XM_006722116.4:c.1411G>C, XM_006722116.3:c.1411G>C, XM_006722116.2:c.1411G>C, XM_006722116.1:c.1411G>C, XM_011525300.2:c.1324G>C, XM_011525300.1:c.1324G>C, NM_001042530.1:c.1324G>C, XM_047436849.1:c.1324G>C, NM_001042531.1:c.439G>C, XM_047436850.1:c.*45G>C, NP_079509.5:p.Asp442His, NP_001035997.2:p.Asp471His, NP_001035994.1:p.Asp442His, XP_006722179.1:p.Asp471His, XP_011523602.1:p.Asp442His, XP_047292805.1:p.Asp442His

Select item 147572031911.

rs1475720319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42563045 (GRCh38)
17:40715063 (GRCh37)
Canonical SPDI:: NC_000017.11:42563044:C:T
Gene:: COASY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42563045C>T, NC_000017.10:g.40715063C>T, NG_029442.1:g.986C>T, NG_034110.1:g.5972C>T, NM_025233.7:c.423C>T, NM_025233.6:c.423C>T, NM_001042532.4:c.510C>T, NM_001042532.3:c.510C>T, NM_001042529.3:c.423C>T, NM_001042529.2:c.423C>T, XM_006722116.5:c.510C>T, XM_006722116.4:c.510C>T, XM_006722116.3:c.510C>T, XM_006722116.2:c.510C>T, XM_006722116.1:c.510C>T, XM_011525300.2:c.423C>T, XM_011525300.1:c.423C>T, NM_001042530.1:c.423C>T, XM_047436849.1:c.423C>T, NM_001042531.1:c.-463C>T, XM_047436850.1:c.423C>T

Select item 147258594412.

rs1472585944 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42564113 (GRCh38)
17:40716131 (GRCh37)
Canonical SPDI:: NC_000017.11:42564112:C:T
Gene:: COASY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.42564113C>T, NC_000017.10:g.40716131C>T, NG_029442.1:g.2054C>T, NG_034110.1:g.7040C>T, NM_025233.7:c.853C>T, NM_025233.6:c.853C>T, NM_001042532.4:c.940C>T, NM_001042532.3:c.940C>T, NM_001042529.3:c.853C>T, NM_001042529.2:c.853C>T, XM_006722116.5:c.940C>T, XM_006722116.4:c.940C>T, XM_006722116.3:c.940C>T, XM_006722116.2:c.940C>T, XM_006722116.1:c.940C>T, XM_011525300.2:c.853C>T, XM_011525300.1:c.853C>T, NM_001042530.1:c.853C>T, XM_047436849.1:c.853C>T, NM_001042531.1:c.-33C>T, XM_047436850.1:c.853C>T

Select item 147117075613.

rs1471170756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42564866 (GRCh38)
17:40716884 (GRCh37)
Canonical SPDI:: NC_000017.11:42564865:C:T
Gene:: COASY (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.42564866C>T, NC_000017.10:g.40716884C>T, NG_029442.1:g.2807C>T, NG_034110.1:g.7793C>T, NM_025233.7:c.1205C>T, NM_025233.6:c.1205C>T, NM_001042532.4:c.1292C>T, NM_001042532.3:c.1292C>T, NM_001042529.3:c.1205C>T, NM_001042529.2:c.1205C>T, XM_006722116.5:c.1292C>T, XM_006722116.4:c.1292C>T, XM_006722116.3:c.1292C>T, XM_006722116.2:c.1292C>T, XM_006722116.1:c.1292C>T, XM_011525300.2:c.1205C>T, XM_011525300.1:c.1205C>T, NM_001042530.1:c.1205C>T, XM_047436849.1:c.1205C>T, NM_001042531.1:c.320C>T, NP_079509.5:p.Ala402Val, NP_001035997.2:p.Ala431Val, NP_001035994.1:p.Ala402Val, XP_006722179.1:p.Ala431Val, XP_011523602.1:p.Ala402Val, XP_047292805.1:p.Ala402Val

Select item 146838792314.

rs1468387923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:42562629 (GRCh38)
17:40714647 (GRCh37)
Canonical SPDI:: NC_000017.11:42562628:G:A,NC_000017.11:42562628:G:T
Gene:: COASY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.42562629G>A, NC_000017.11:g.42562629G>T, NC_000017.10:g.40714647G>A, NC_000017.10:g.40714647G>T, NG_029442.1:g.570G>A, NG_029442.1:g.570G>T, NG_034110.1:g.5556G>A, NG_034110.1:g.5556G>T, NM_025233.7:c.7G>A, NM_025233.7:c.7G>T, NM_025233.6:c.7G>A, NM_025233.6:c.7G>T, NM_001042532.4:c.94G>A, NM_001042532.4:c.94G>T, NM_001042532.3:c.94G>A, NM_001042532.3:c.94G>T, NM_001042529.3:c.7G>A, NM_001042529.3:c.7G>T, NM_001042529.2:c.7G>A, NM_001042529.2:c.7G>T, XM_006722116.5:c.94G>A, XM_006722116.5:c.94G>T, XM_006722116.4:c.94G>A, XM_006722116.4:c.94G>T, XM_006722116.3:c.94G>A, XM_006722116.3:c.94G>T, XM_006722116.2:c.94G>A, XM_006722116.2:c.94G>T, XM_006722116.1:c.94G>A, XM_006722116.1:c.94G>T, XM_011525300.2:c.7G>A, XM_011525300.2:c.7G>T, XM_011525300.1:c.7G>A, XM_011525300.1:c.7G>T, NM_001042530.1:c.7G>A, NM_001042530.1:c.7G>T, XM_047436849.1:c.7G>A, XM_047436849.1:c.7G>T, XM_047436850.1:c.7G>A, XM_047436850.1:c.7G>T, NP_079509.5:p.Val3Ile, NP_079509.5:p.Val3Leu, NP_001035997.2:p.Val32Ile, NP_001035997.2:p.Val32Leu, NP_001035994.1:p.Val3Ile, NP_001035994.1:p.Val3Leu, XP_006722179.1:p.Val32Ile, XP_006722179.1:p.Val32Leu, XP_011523602.1:p.Val3Ile, XP_011523602.1:p.Val3Leu, XP_047292805.1:p.Val3Ile, XP_047292805.1:p.Val3Leu, XP_047292806.1:p.Val3Ile, XP_047292806.1:p.Val3Leu

Select item 146761026215.

rs1467610262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42563255 (GRCh38)
17:40715273 (GRCh37)
Canonical SPDI:: NC_000017.11:42563254:C:A
Gene:: COASY (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42563255C>A, NC_000017.10:g.40715273C>A, NG_029442.1:g.1196C>A, NG_034110.1:g.6182C>A, NM_025233.7:c.633C>A, NM_025233.6:c.633C>A, NM_001042532.4:c.720C>A, NM_001042532.3:c.720C>A, NM_001042529.3:c.633C>A, NM_001042529.2:c.633C>A, XM_006722116.5:c.720C>A, XM_006722116.4:c.720C>A, XM_006722116.3:c.720C>A, XM_006722116.2:c.720C>A, XM_006722116.1:c.720C>A, XM_011525300.2:c.633C>A, XM_011525300.1:c.633C>A, NM_001042530.1:c.633C>A, XM_047436849.1:c.633C>A, NM_001042531.1:c.-253C>A, XM_047436850.1:c.633C>A

Select item 146719197616.

rs1467191976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42562951 (GRCh38)
17:40714969 (GRCh37)
Canonical SPDI:: NC_000017.11:42562950:C:A
Gene:: COASY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42562951C>A, NC_000017.10:g.40714969C>A, NG_029442.1:g.892C>A, NG_034110.1:g.5878C>A, NM_025233.7:c.329C>A, NM_025233.6:c.329C>A, NM_001042532.4:c.416C>A, NM_001042532.3:c.416C>A, NM_001042529.3:c.329C>A, NM_001042529.2:c.329C>A, XM_006722116.5:c.416C>A, XM_006722116.4:c.416C>A, XM_006722116.3:c.416C>A, XM_006722116.2:c.416C>A, XM_006722116.1:c.416C>A, XM_011525300.2:c.329C>A, XM_011525300.1:c.329C>A, NM_001042530.1:c.329C>A, XM_047436849.1:c.329C>A, NM_001042531.1:c.-557C>A, XM_047436850.1:c.329C>A, NP_079509.5:p.Pro110Gln, NP_001035997.2:p.Pro139Gln, NP_001035994.1:p.Pro110Gln, XP_006722179.1:p.Pro139Gln, XP_011523602.1:p.Pro110Gln, XP_047292805.1:p.Pro110Gln, XP_047292806.1:p.Pro110Gln

Select item 146696398517.

rs1466963985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42563215 (GRCh38)
17:40715233 (GRCh37)
Canonical SPDI:: NC_000017.11:42563214:G:A
Gene:: COASY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42563215G>A, NC_000017.10:g.40715233G>A, NG_029442.1:g.1156G>A, NG_034110.1:g.6142G>A, NM_025233.7:c.593G>A, NM_025233.6:c.593G>A, NM_001042532.4:c.680G>A, NM_001042532.3:c.680G>A, NM_001042529.3:c.593G>A, NM_001042529.2:c.593G>A, XM_006722116.5:c.680G>A, XM_006722116.4:c.680G>A, XM_006722116.3:c.680G>A, XM_006722116.2:c.680G>A, XM_006722116.1:c.680G>A, XM_011525300.2:c.593G>A, XM_011525300.1:c.593G>A, NM_001042530.1:c.593G>A, XM_047436849.1:c.593G>A, NM_001042531.1:c.-293G>A, XM_047436850.1:c.593G>A, NP_079509.5:p.Gly198Asp, NP_001035997.2:p.Gly227Asp, NP_001035994.1:p.Gly198Asp, XP_006722179.1:p.Gly227Asp, XP_011523602.1:p.Gly198Asp, XP_047292805.1:p.Gly198Asp, XP_047292806.1:p.Gly198Asp

Select item 146648334118.

rs1466483341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42563978 (GRCh38)
17:40715996 (GRCh37)
Canonical SPDI:: NC_000017.11:42563977:C:G
Gene:: COASY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.42563978C>G, NC_000017.10:g.40715996C>G, NG_029442.1:g.1919C>G, NG_034110.1:g.6905C>G, NM_025233.7:c.718C>G, NM_025233.6:c.718C>G, NM_001042532.4:c.805C>G, NM_001042532.3:c.805C>G, NM_001042529.3:c.718C>G, NM_001042529.2:c.718C>G, XM_006722116.5:c.805C>G, XM_006722116.4:c.805C>G, XM_006722116.3:c.805C>G, XM_006722116.2:c.805C>G, XM_006722116.1:c.805C>G, XM_011525300.2:c.718C>G, XM_011525300.1:c.718C>G, NM_001042530.1:c.718C>G, XM_047436849.1:c.718C>G, NM_001042531.1:c.-168C>G, XM_047436850.1:c.718C>G, NP_079509.5:p.Leu240Val, NP_001035997.2:p.Leu269Val, NP_001035994.1:p.Leu240Val, XP_006722179.1:p.Leu269Val, XP_011523602.1:p.Leu240Val, XP_047292805.1:p.Leu240Val, XP_047292806.1:p.Leu240Val

Select item 146304900919.

rs1463049009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42562987 (GRCh38)
17:40715005 (GRCh37)
Canonical SPDI:: NC_000017.11:42562986:A:G
Gene:: COASY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.42562987A>G, NC_000017.10:g.40715005A>G, NG_029442.1:g.928A>G, NG_034110.1:g.5914A>G, NM_025233.7:c.365A>G, NM_025233.6:c.365A>G, NM_001042532.4:c.452A>G, NM_001042532.3:c.452A>G, NM_001042529.3:c.365A>G, NM_001042529.2:c.365A>G, XM_006722116.5:c.452A>G, XM_006722116.4:c.452A>G, XM_006722116.3:c.452A>G, XM_006722116.2:c.452A>G, XM_006722116.1:c.452A>G, XM_011525300.2:c.365A>G, XM_011525300.1:c.365A>G, NM_001042530.1:c.365A>G, XM_047436849.1:c.365A>G, NM_001042531.1:c.-521A>G, XM_047436850.1:c.365A>G, NP_079509.5:p.Asp122Gly, NP_001035997.2:p.Asp151Gly, NP_001035994.1:p.Asp122Gly, XP_006722179.1:p.Asp151Gly, XP_011523602.1:p.Asp122Gly, XP_047292805.1:p.Asp122Gly, XP_047292806.1:p.Asp122Gly

Select item 146273213920.

rs1462732139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42563095 (GRCh38)
17:40715113 (GRCh37)
Canonical SPDI:: NC_000017.11:42563094:T:C
Gene:: COASY (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.42563095T>C, NC_000017.10:g.40715113T>C, NG_029442.1:g.1036T>C, NG_034110.1:g.6022T>C, NM_025233.7:c.473T>C, NM_025233.6:c.473T>C, NM_001042532.4:c.560T>C, NM_001042532.3:c.560T>C, NM_001042529.3:c.473T>C, NM_001042529.2:c.473T>C, XM_006722116.5:c.560T>C, XM_006722116.4:c.560T>C, XM_006722116.3:c.560T>C, XM_006722116.2:c.560T>C, XM_006722116.1:c.560T>C, XM_011525300.2:c.473T>C, XM_011525300.1:c.473T>C, NM_001042530.1:c.473T>C, XM_047436849.1:c.473T>C, NM_001042531.1:c.-413T>C, XM_047436850.1:c.473T>C, NP_079509.5:p.Ile158Thr, NP_001035997.2:p.Ile187Thr, NP_001035994.1:p.Ile158Thr, XP_006722179.1:p.Ile187Thr, XP_011523602.1:p.Ile158Thr, XP_047292805.1:p.Ile158Thr, XP_047292806.1:p.Ile158Thr

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