SNP Links for Protein (Select 767957640) - SNP

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Links from Protein

Items: 1 to 20 of 625

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Select item 14887101631.

rs1488710163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128424255 (GRCh38)
9:131186534 (GRCh37)
Canonical SPDI:: NC_000009.12:128424254:T:C
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.128424255T>C, NC_000009.11:g.131186534T>C, NM_016174.5:c.544T>C, NM_016174.4:c.544T>C, XM_011518763.4:c.310T>C, XM_011518763.3:c.310T>C, XM_011518763.2:c.310T>C, XM_011518763.1:c.310T>C, XM_047423450.1:c.310T>C, NM_001286760.1:c.310T>C, NP_057258.3:p.Cys182Arg, XP_011517065.1:p.Cys104Arg, XP_047279406.1:p.Cys104Arg, NP_001273689.1:p.Cys104Arg

Select item 14881728882.

rs1488172888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128431233 (GRCh38)
9:131193512 (GRCh37)
Canonical SPDI:: NC_000009.12:128431232:C:T
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128431233C>T, NC_000009.11:g.131193512C>T, NM_016174.5:c.1133C>T, NM_016174.4:c.1133C>T, XM_011518763.4:c.899C>T, XM_011518763.3:c.899C>T, XM_011518763.2:c.899C>T, XM_011518763.1:c.899C>T, XM_047423450.1:c.899C>T, NM_001286760.1:c.899C>T, NP_057258.3:p.Pro378Leu, XP_011517065.1:p.Pro300Leu, XP_047279406.1:p.Pro300Leu, NP_001273689.1:p.Pro300Leu

Select item 14874636123.

rs1487463612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:128424235 (GRCh38)
9:131186514 (GRCh37)
Canonical SPDI:: NC_000009.12:128424234:C:G
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128424235C>G, NC_000009.11:g.131186514C>G, NM_016174.5:c.524C>G, NM_016174.4:c.524C>G, XM_011518763.4:c.290C>G, XM_011518763.3:c.290C>G, XM_011518763.2:c.290C>G, XM_011518763.1:c.290C>G, XM_047423450.1:c.290C>G, NM_001286760.1:c.290C>G, NP_057258.3:p.Thr175Ser, XP_011517065.1:p.Thr97Ser, XP_047279406.1:p.Thr97Ser, NP_001273689.1:p.Thr97Ser

Select item 14867886374.

rs1486788637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:128435860 (GRCh38)
9:131198139 (GRCh37)
Canonical SPDI:: NC_000009.12:128435859:C:A
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128435860C>A, NC_000009.11:g.131198139C>A, NM_016174.5:c.1743C>A, NM_016174.4:c.1743C>A, XM_011518763.4:c.1509C>A, XM_011518763.3:c.1509C>A, XM_011518763.2:c.1509C>A, XM_011518763.1:c.1509C>A, XM_047423450.1:c.1509C>A, NM_001286760.1:c.1509C>A

Select item 14846800455.

rs1484680045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:128429010 (GRCh38)
9:131191289 (GRCh37)
Canonical SPDI:: NC_000009.12:128429009:G:C
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.128429010G>C, NC_000009.11:g.131191289G>C, NM_016174.5:c.1044G>C, NM_016174.4:c.1044G>C, XM_011518763.4:c.810G>C, XM_011518763.3:c.810G>C, XM_011518763.2:c.810G>C, XM_011518763.1:c.810G>C, XM_047423450.1:c.810G>C, NM_001286760.1:c.810G>C

Select item 14838579086.

rs1483857908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128434185 (GRCh38)
9:131196464 (GRCh37)
Canonical SPDI:: NC_000009.12:128434184:G:A
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128434185G>A, NC_000009.11:g.131196464G>A, NM_016174.5:c.1287G>A, NM_016174.4:c.1287G>A, XM_011518763.4:c.1053G>A, XM_011518763.3:c.1053G>A, XM_011518763.2:c.1053G>A, XM_011518763.1:c.1053G>A, XM_047423450.1:c.1053G>A, NM_001286760.1:c.1053G>A

Select item 14837913677.

rs1483791367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128422918 (GRCh38)
9:131185197 (GRCh37)
Canonical SPDI:: NC_000009.12:128422917:G:A
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
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_000009.12:g.128422918G>A, NC_000009.11:g.131185197G>A, NM_016174.5:c.248G>A, NM_016174.4:c.248G>A, XM_011518763.4:c.14G>A, XM_011518763.3:c.14G>A, XM_011518763.2:c.14G>A, XM_011518763.1:c.14G>A, XM_047423450.1:c.14G>A, NM_001286760.1:c.14G>A, NP_057258.3:p.Trp83Ter, XP_011517065.1:p.Trp5Ter, XP_047279406.1:p.Trp5Ter, NP_001273689.1:p.Trp5Ter

Select item 14833337558.

rs1483333755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128423158 (GRCh38)
9:131185437 (GRCh37)
Canonical SPDI:: NC_000009.12:128423157:T:C
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.128423158T>C, NC_000009.11:g.131185437T>C, NM_016174.5:c.321T>C, NM_016174.4:c.321T>C, XM_011518763.4:c.87T>C, XM_011518763.3:c.87T>C, XM_011518763.2:c.87T>C, XM_011518763.1:c.87T>C, XM_047423450.1:c.87T>C, NM_001286760.1:c.87T>C

Select item 14826185229.

rs1482618522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128423247 (GRCh38)
9:131185526 (GRCh37)
Canonical SPDI:: NC_000009.12:128423246:G:A
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128423247G>A, NC_000009.11:g.131185526G>A, NM_016174.5:c.410G>A, NM_016174.4:c.410G>A, XM_011518763.4:c.176G>A, XM_011518763.3:c.176G>A, XM_011518763.2:c.176G>A, XM_011518763.1:c.176G>A, XM_047423450.1:c.176G>A, NM_001286760.1:c.176G>A, NP_057258.3:p.Gly137Glu, XP_011517065.1:p.Gly59Glu, XP_047279406.1:p.Gly59Glu, NP_001273689.1:p.Gly59Glu

Select item 147776383410.

rs1477763834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128434589 (GRCh38)
9:131196868 (GRCh37)
Canonical SPDI:: NC_000009.12:128434588:C:T
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.128434589C>T, NC_000009.11:g.131196868C>T, NM_016174.5:c.1511C>T, NM_016174.4:c.1511C>T, XM_011518763.4:c.1277C>T, XM_011518763.3:c.1277C>T, XM_011518763.2:c.1277C>T, XM_011518763.1:c.1277C>T, XM_047423450.1:c.1277C>T, NM_001286760.1:c.1277C>T, NP_057258.3:p.Pro504Leu, XP_011517065.1:p.Pro426Leu, XP_047279406.1:p.Pro426Leu, NP_001273689.1:p.Pro426Leu

Select item 147755260311.

rs1477552603 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTCGCTGCCCCT>- [Show Flanks]
Chromosome:: 9:128435713 (GRCh38)
9:131197992 (GRCh37)
Canonical SPDI:: NC_000009.12:128435706:GCCCCTGCTCGCTGCCCCT:GCCCCT
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128435713_128435725del, NC_000009.11:g.131197992_131198004del, NM_016174.5:c.1596_1608del, NM_016174.4:c.1596_1608del, XM_011518763.4:c.1362_1374del, XM_011518763.3:c.1362_1374del, XM_011518763.2:c.1362_1374del, XM_011518763.1:c.1362_1374del, XM_047423450.1:c.1362_1374del, NM_001286760.1:c.1362_1374del, NP_057258.3:p.Leu533fs, XP_011517065.1:p.Leu455fs, XP_047279406.1:p.Leu455fs, NP_001273689.1:p.Leu455fs

Select item 147418082412.

rs1474180824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128428963 (GRCh38)
9:131191242 (GRCh37)
Canonical SPDI:: NC_000009.12:128428962:C:T
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000009.12:g.128428963C>T, NC_000009.11:g.131191242C>T, NM_016174.5:c.997C>T, NM_016174.4:c.997C>T, XM_011518763.4:c.763C>T, XM_011518763.3:c.763C>T, XM_011518763.2:c.763C>T, XM_011518763.1:c.763C>T, XM_047423450.1:c.763C>T, NM_001286760.1:c.763C>T, NP_057258.3:p.Arg333Cys, XP_011517065.1:p.Arg255Cys, XP_047279406.1:p.Arg255Cys, NP_001273689.1:p.Arg255Cys

Select item 147222662513.

rs1472226625 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:128424236 (GRCh38)
9:131186515 (GRCh37)
Canonical SPDI:: NC_000009.12:128424235:CT:
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128424236_128424237del, NC_000009.11:g.131186515_131186516del, NM_016174.5:c.525_526del, NM_016174.4:c.525_526del, XM_011518763.4:c.291_292del, XM_011518763.3:c.291_292del, XM_011518763.2:c.291_292del, XM_011518763.1:c.291_292del, XM_047423450.1:c.291_292del, NM_001286760.1:c.291_292del, NP_057258.3:p.Tyr176fs, XP_011517065.1:p.Tyr98fs, XP_047279406.1:p.Tyr98fs, NP_001273689.1:p.Tyr98fs

Select item 146972159514.

rs1469721595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128424160 (GRCh38)
9:131186439 (GRCh37)
Canonical SPDI:: NC_000009.12:128424159:T:C
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.128424160T>C, NC_000009.11:g.131186439T>C, NM_016174.5:c.449T>C, NM_016174.4:c.449T>C, XM_011518763.4:c.215T>C, XM_011518763.3:c.215T>C, XM_011518763.2:c.215T>C, XM_011518763.1:c.215T>C, XM_047423450.1:c.215T>C, NM_001286760.1:c.215T>C, NP_057258.3:p.Leu150Pro, XP_011517065.1:p.Leu72Pro, XP_047279406.1:p.Leu72Pro, NP_001273689.1:p.Leu72Pro

Select item 146944086615.

rs1469440866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:128428366 (GRCh38)
9:131190645 (GRCh37)
Canonical SPDI:: NC_000009.12:128428365:C:G,NC_000009.12:128428365:C:T
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128428366C>G, NC_000009.12:g.128428366C>T, NC_000009.11:g.131190645C>G, NC_000009.11:g.131190645C>T, NM_016174.5:c.831C>G, NM_016174.5:c.831C>T, NM_016174.4:c.831C>G, NM_016174.4:c.831C>T, XM_011518763.4:c.597C>G, XM_011518763.4:c.597C>T, XM_011518763.3:c.597C>G, XM_011518763.3:c.597C>T, XM_011518763.2:c.597C>G, XM_011518763.2:c.597C>T, XM_011518763.1:c.597C>G, XM_011518763.1:c.597C>T, XM_047423450.1:c.597C>G, XM_047423450.1:c.597C>T, NM_001286760.1:c.597C>G, NM_001286760.1:c.597C>T, NP_057258.3:p.His277Gln, XP_011517065.1:p.His199Gln, XP_047279406.1:p.His199Gln, NP_001273689.1:p.His199Gln

Select item 146898951916.

rs1468989519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128424542 (GRCh38)
9:131186821 (GRCh37)
Canonical SPDI:: NC_000009.12:128424541:T:C
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128424542T>C, NC_000009.11:g.131186821T>C, NM_016174.5:c.694T>C, NM_016174.4:c.694T>C, XM_011518763.4:c.460T>C, XM_011518763.3:c.460T>C, XM_011518763.2:c.460T>C, XM_011518763.1:c.460T>C, XM_047423450.1:c.460T>C, NM_001286760.1:c.460T>C, NP_057258.3:p.Tyr232His, XP_011517065.1:p.Tyr154His, XP_047279406.1:p.Tyr154His, NP_001273689.1:p.Tyr154His

Select item 146678373117.

rs1466783731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128434182 (GRCh38)
9:131196461 (GRCh37)
Canonical SPDI:: NC_000009.12:128434181:G:A
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128434182G>A, NC_000009.11:g.131196461G>A, NM_016174.5:c.1284G>A, NM_016174.4:c.1284G>A, XM_011518763.4:c.1050G>A, XM_011518763.3:c.1050G>A, XM_011518763.2:c.1050G>A, XM_011518763.1:c.1050G>A, XM_047423450.1:c.1050G>A, NM_001286760.1:c.1050G>A

Select item 146474338018.

rs1464743380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128435751 (GRCh38)
9:131198030 (GRCh37)
Canonical SPDI:: NC_000009.12:128435750:G:A
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.128435751G>A, NC_000009.11:g.131198030G>A, NM_016174.5:c.1634G>A, NM_016174.4:c.1634G>A, XM_011518763.4:c.1400G>A, XM_011518763.3:c.1400G>A, XM_011518763.2:c.1400G>A, XM_011518763.1:c.1400G>A, XM_047423450.1:c.1400G>A, NM_001286760.1:c.1400G>A, NP_057258.3:p.Trp545Ter, XP_011517065.1:p.Trp467Ter, XP_047279406.1:p.Trp467Ter, NP_001273689.1:p.Trp467Ter

Select item 146430840519.

rs1464308405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128435777 (GRCh38)
9:131198056 (GRCh37)
Canonical SPDI:: NC_000009.12:128435776:C:T
Gene:: CERCAM (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)
HGVS:: NC_000009.12:g.128435777C>T, NC_000009.11:g.131198056C>T, NM_016174.5:c.1660C>T, NM_016174.4:c.1660C>T, XM_011518763.4:c.1426C>T, XM_011518763.3:c.1426C>T, XM_011518763.2:c.1426C>T, XM_011518763.1:c.1426C>T, XM_047423450.1:c.1426C>T, NM_001286760.1:c.1426C>T, NP_057258.3:p.Pro554Ser, XP_011517065.1:p.Pro476Ser, XP_047279406.1:p.Pro476Ser, NP_001273689.1:p.Pro476Ser

Select item 146347273720.

rs1463472737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:128424183 (GRCh38)
9:131186462 (GRCh37)
Canonical SPDI:: NC_000009.12:128424182:C:A
Gene:: CERCAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128424183C>A, NC_000009.11:g.131186462C>A, NM_016174.5:c.472C>A, NM_016174.4:c.472C>A, XM_011518763.4:c.238C>A, XM_011518763.3:c.238C>A, XM_011518763.2:c.238C>A, XM_011518763.1:c.238C>A, XM_047423450.1:c.238C>A, NM_001286760.1:c.238C>A, NP_057258.3:p.Leu158Ile, XP_011517065.1:p.Leu80Ile, XP_047279406.1:p.Leu80Ile, NP_001273689.1:p.Leu80Ile

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