SNP Links for Protein (Select 21361282) - SNP

Links from Protein

Items: 1 to 20 of 449

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Select item 14829025391.

rs1482902539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:29148948 (GRCh38)
1:29475460 (GRCh37)
Canonical SPDI:: NC_000001.11:29148947:C:T
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.29148948C>T, NC_000001.10:g.29475460C>T, NM_005626.5:c.947G>A, NM_005626.4:c.947G>A, XM_011541951.4:c.857G>A, XM_011541951.3:c.857G>A, XM_011541951.2:c.857G>A, XM_011541951.1:c.857G>A, XM_047427706.1:c.884G>A, XM_047427708.1:c.884G>A, XM_047427714.1:c.578G>A, NP_005617.2:p.Ser316Asn, XP_011540253.1:p.Ser286Asn, XP_047283662.1:p.Ser295Asn, XP_047283664.1:p.Ser295Asn, XP_047283670.1:p.Ser193Asn

Select item 14811134322.

rs1481113432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:29150111 (GRCh38)
1:29476623 (GRCh37)
Canonical SPDI:: NC_000001.11:29150110:A:C,NC_000001.11:29150110:A:G
Gene:: SRSF4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.29150111A>C, NC_000001.11:g.29150111A>G, NC_000001.10:g.29476623A>C, NC_000001.10:g.29476623A>G, NM_005626.5:c.660T>G, NM_005626.5:c.660T>C, NM_005626.4:c.660T>G, NM_005626.4:c.660T>C, XM_047427706.1:c.597T>G, XM_047427706.1:c.597T>C, XM_047427708.1:c.597T>G, XM_047427708.1:c.597T>C, XM_047427714.1:c.291T>G, XM_047427714.1:c.291T>C

Select item 14803332583.

rs1480333258 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:29150103 (GRCh38)
1:29476615 (GRCh37)
Canonical SPDI:: NC_000001.11:29150102:CT:
Gene:: SRSF4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00129/21 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.29150103_29150104del, NC_000001.10:g.29476615_29476616del, NM_005626.5:c.667_668del, NM_005626.4:c.667_668del, XM_047427706.1:c.604_605del, XM_047427708.1:c.604_605del, XM_047427714.1:c.298_299del, NP_005617.2:p.Arg223fs, XP_047283662.1:p.Arg202fs, XP_047283664.1:p.Arg202fs, XP_047283670.1:p.Arg100fs

Select item 14786026984.

rs1478602698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:29181744 (GRCh38)
1:29508256 (GRCh37)
Canonical SPDI:: NC_000001.11:29181743:C:A,NC_000001.11:29181743:C:T
Gene:: SRSF4 (Varview), MECR (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.29181744C>A, NC_000001.11:g.29181744C>T, NC_000001.10:g.29508256C>A, NC_000001.10:g.29508256C>T, NM_005626.5:c.9G>T, NM_005626.5:c.9G>A, NM_005626.4:c.9G>T, NM_005626.4:c.9G>A, XM_011541951.4:c.9G>T, XM_011541951.4:c.9G>A, XM_011541951.3:c.9G>T, XM_011541951.3:c.9G>A, XM_011541951.2:c.9G>T, XM_011541951.2:c.9G>A, XM_011541951.1:c.9G>T, XM_011541951.1:c.9G>A

Select item 14776419365.

rs1477641936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:29148446 (GRCh38)
1:29474958 (GRCh37)
Canonical SPDI:: NC_000001.11:29148445:G:A
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.29148446G>A, NC_000001.10:g.29474958G>A, NM_005626.5:c.1449C>T, NM_005626.4:c.1449C>T, XM_011541951.4:c.1359C>T, XM_011541951.3:c.1359C>T, XM_011541951.2:c.1359C>T, XM_011541951.1:c.1359C>T, XM_047427706.1:c.1386C>T, XM_047427708.1:c.1386C>T, XM_047427714.1:c.1080C>T

Select item 14714490656.

rs1471449065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:29148513 (GRCh38)
1:29475025 (GRCh37)
Canonical SPDI:: NC_000001.11:29148512:C:A
Gene:: SRSF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.29148513C>A, NC_000001.10:g.29475025C>A, NM_005626.5:c.1382G>T, NM_005626.4:c.1382G>T, XM_011541951.4:c.1292G>T, XM_011541951.3:c.1292G>T, XM_011541951.2:c.1292G>T, XM_011541951.1:c.1292G>T, XM_047427706.1:c.1319G>T, XM_047427708.1:c.1319G>T, XM_047427714.1:c.1013G>T, NP_005617.2:p.Arg461Ile, XP_011540253.1:p.Arg431Ile, XP_047283662.1:p.Arg440Ile, XP_047283664.1:p.Arg440Ile, XP_047283670.1:p.Arg338Ile

Select item 14712525117.

rs1471252511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:29159473 (GRCh38)
1:29485985 (GRCh37)
Canonical SPDI:: NC_000001.11:29159472:A:G
Gene:: SRSF4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_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_000001.11:g.29159473A>G, NC_000001.10:g.29485985A>G, NM_005626.5:c.264T>C, NM_005626.4:c.264T>C, XM_011541951.4:c.264T>C, XM_011541951.3:c.264T>C, XM_011541951.2:c.264T>C, XM_011541951.1:c.264T>C, XM_047427706.1:c.201T>C, XM_047427708.1:c.201T>C, XM_047427714.1:c.-106T>C

Select item 14635565438.

rs1463556543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:29148750 (GRCh38)
1:29475262 (GRCh37)
Canonical SPDI:: NC_000001.11:29148749:C:T
Gene:: SRSF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.29148750C>T, NC_000001.10:g.29475262C>T, NM_005626.5:c.1145G>A, NM_005626.4:c.1145G>A, XM_011541951.4:c.1055G>A, XM_011541951.3:c.1055G>A, XM_011541951.2:c.1055G>A, XM_011541951.1:c.1055G>A, XM_047427706.1:c.1082G>A, XM_047427708.1:c.1082G>A, XM_047427714.1:c.776G>A, NP_005617.2:p.Ser382Asn, XP_011540253.1:p.Ser352Asn, XP_047283662.1:p.Ser361Asn, XP_047283664.1:p.Ser361Asn, XP_047283670.1:p.Ser259Asn

Select item 14632048019.

rs1463204801 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGC>- [Show Flanks]
Chromosome:: 1:29150143 (GRCh38)
1:29476655 (GRCh37)
Canonical SPDI:: NC_000001.11:29150136:TGCTGCTGC:TGCTGC
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCTGC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.29150137TGC[2], NC_000001.10:g.29476649TGC[2], NM_005626.5:c.626GCA[2], NM_005626.4:c.626GCA[2], XM_047427706.1:c.563GCA[2], XM_047427708.1:c.563GCA[2], XM_047427714.1:c.257GCA[2], NP_005617.2:p.Ser211del, XP_047283662.1:p.Ser190del, XP_047283664.1:p.Ser190del, XP_047283670.1:p.Ser88del

Select item 146222104210.

rs1462221042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:29149038 (GRCh38)
1:29475550 (GRCh37)
Canonical SPDI:: NC_000001.11:29149037:G:A,NC_000001.11:29149037:G:C
Gene:: SRSF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.29149038G>A, NC_000001.11:g.29149038G>C, NC_000001.10:g.29475550G>A, NC_000001.10:g.29475550G>C, NM_005626.5:c.857C>T, NM_005626.5:c.857C>G, NM_005626.4:c.857C>T, NM_005626.4:c.857C>G, XM_011541951.4:c.767C>T, XM_011541951.4:c.767C>G, XM_011541951.3:c.767C>T, XM_011541951.3:c.767C>G, XM_011541951.2:c.767C>T, XM_011541951.2:c.767C>G, XM_011541951.1:c.767C>T, XM_011541951.1:c.767C>G, XM_047427706.1:c.794C>T, XM_047427706.1:c.794C>G, XM_047427708.1:c.794C>T, XM_047427708.1:c.794C>G, XM_047427714.1:c.488C>T, XM_047427714.1:c.488C>G, NP_005617.2:p.Pro286Leu, NP_005617.2:p.Pro286Arg, XP_011540253.1:p.Pro256Leu, XP_011540253.1:p.Pro256Arg, XP_047283662.1:p.Pro265Leu, XP_047283662.1:p.Pro265Arg, XP_047283664.1:p.Pro265Leu, XP_047283664.1:p.Pro265Arg, XP_047283670.1:p.Pro163Leu, XP_047283670.1:p.Pro163Arg

Select item 146129041211.

rs1461290412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:29148774 (GRCh38)
1:29475286 (GRCh37)
Canonical SPDI:: NC_000001.11:29148773:C:G
Gene:: SRSF4 (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)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.29148774C>G, NC_000001.10:g.29475286C>G, NM_005626.5:c.1121G>C, NM_005626.4:c.1121G>C, XM_011541951.4:c.1031G>C, XM_011541951.3:c.1031G>C, XM_011541951.2:c.1031G>C, XM_011541951.1:c.1031G>C, XM_047427706.1:c.1058G>C, XM_047427708.1:c.1058G>C, XM_047427714.1:c.752G>C, NP_005617.2:p.Ser374Thr, XP_011540253.1:p.Ser344Thr, XP_047283662.1:p.Ser353Thr, XP_047283664.1:p.Ser353Thr, XP_047283670.1:p.Ser251Thr

Select item 145808675412.

rs1458086754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:29148749 (GRCh38)
1:29475261 (GRCh37)
Canonical SPDI:: NC_000001.11:29148748:G:T
Gene:: SRSF4 (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)
HGVS:: NC_000001.11:g.29148749G>T, NC_000001.10:g.29475261G>T, NM_005626.5:c.1146C>A, NM_005626.4:c.1146C>A, XM_011541951.4:c.1056C>A, XM_011541951.3:c.1056C>A, XM_011541951.2:c.1056C>A, XM_011541951.1:c.1056C>A, XM_047427706.1:c.1083C>A, XM_047427708.1:c.1083C>A, XM_047427714.1:c.777C>A, NP_005617.2:p.Ser382Arg, XP_011540253.1:p.Ser352Arg, XP_047283662.1:p.Ser361Arg, XP_047283664.1:p.Ser361Arg, XP_047283670.1:p.Ser259Arg

Select item 145674412713.

rs1456744127 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGACTCTGGCTCCGGCTCCGGCTC>- [Show Flanks]
Chromosome:: 1:29149179 (GRCh38)
1:29475691 (GRCh37)
Canonical SPDI:: NC_000001.11:29149168:GCTCCGGCTCCGACTCTGGCTCCGGCTCCGGCTC:GCTCCGGCTC
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: GCTCCGGCTC=0./0 (ALFA)
HGVS:: NC_000001.11:g.29149179_29149202del, NC_000001.10:g.29475691_29475714del, NM_005626.5:c.703_726del, NM_005626.4:c.703_726del, XM_011541951.4:c.613_636del, XM_011541951.3:c.613_636del, XM_011541951.2:c.613_636del, XM_011541951.1:c.613_636del, XM_047427706.1:c.640_663del, XM_047427708.1:c.640_663del, XM_047427714.1:c.334_357del, NP_005617.2:p.Arg235_Ser242del, XP_011540253.1:p.Arg205_Ser212del, XP_047283662.1:p.Arg214_Ser221del, XP_047283664.1:p.Arg214_Ser221del, XP_047283670.1:p.Arg112_Ser119del

Select item 145634758314.

rs1456347583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:29148835 (GRCh38)
1:29475347 (GRCh37)
Canonical SPDI:: NC_000001.11:29148834:T:G
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.29148835T>G, NC_000001.10:g.29475347T>G, NM_005626.5:c.1060A>C, NM_005626.4:c.1060A>C, XM_011541951.4:c.970A>C, XM_011541951.3:c.970A>C, XM_011541951.2:c.970A>C, XM_011541951.1:c.970A>C, XM_047427706.1:c.997A>C, XM_047427708.1:c.997A>C, XM_047427714.1:c.691A>C

Select item 145353293315.

rs1453532933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:29148663 (GRCh38)
1:29475175 (GRCh37)
Canonical SPDI:: NC_000001.11:29148662:A:C
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.29148663A>C, NC_000001.10:g.29475175A>C, NM_005626.5:c.1232T>G, NM_005626.4:c.1232T>G, XM_011541951.4:c.1142T>G, XM_011541951.3:c.1142T>G, XM_011541951.2:c.1142T>G, XM_011541951.1:c.1142T>G, XM_047427706.1:c.1169T>G, XM_047427708.1:c.1169T>G, XM_047427714.1:c.863T>G, NP_005617.2:p.Val411Gly, XP_011540253.1:p.Val381Gly, XP_047283662.1:p.Val390Gly, XP_047283664.1:p.Val390Gly, XP_047283670.1:p.Val288Gly

Select item 145103064116.

rs1451030641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:29148501 (GRCh38)
1:29475013 (GRCh37)
Canonical SPDI:: NC_000001.11:29148500:G:A
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.29148501G>A, NC_000001.10:g.29475013G>A, NM_005626.5:c.1394C>T, NM_005626.4:c.1394C>T, XM_011541951.4:c.1304C>T, XM_011541951.3:c.1304C>T, XM_011541951.2:c.1304C>T, XM_011541951.1:c.1304C>T, XM_047427706.1:c.1331C>T, XM_047427708.1:c.1331C>T, XM_047427714.1:c.1025C>T, NP_005617.2:p.Ala465Val, XP_011540253.1:p.Ala435Val, XP_047283662.1:p.Ala444Val, XP_047283664.1:p.Ala444Val, XP_047283670.1:p.Ala342Val

Select item 144756748817.

rs1447567488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:29149122 (GRCh38)
1:29475634 (GRCh37)
Canonical SPDI:: NC_000001.11:29149121:C:T
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.29149122C>T, NC_000001.10:g.29475634C>T, NM_005626.5:c.773G>A, NM_005626.4:c.773G>A, XM_011541951.4:c.683G>A, XM_011541951.3:c.683G>A, XM_011541951.2:c.683G>A, XM_011541951.1:c.683G>A, XM_047427706.1:c.710G>A, XM_047427708.1:c.710G>A, XM_047427714.1:c.404G>A, NP_005617.2:p.Arg258His, XP_011540253.1:p.Arg228His, XP_047283662.1:p.Arg237His, XP_047283664.1:p.Arg237His, XP_047283670.1:p.Arg135His

Select item 144743061818.

rs1447430618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:29160394 (GRCh38)
1:29486906 (GRCh37)
Canonical SPDI:: NC_000001.11:29160393:G:A,NC_000001.11:29160393:G:C
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.29160394G>A, NC_000001.11:g.29160394G>C, NC_000001.10:g.29486906G>A, NC_000001.10:g.29486906G>C, NM_005626.5:c.231C>T, NM_005626.5:c.231C>G, NM_005626.4:c.231C>T, NM_005626.4:c.231C>G, XM_011541951.4:c.231C>T, XM_011541951.4:c.231C>G, XM_011541951.3:c.231C>T, XM_011541951.3:c.231C>G, XM_011541951.2:c.231C>T, XM_011541951.2:c.231C>G, XM_011541951.1:c.231C>T, XM_011541951.1:c.231C>G, XM_047427706.1:c.168C>T, XM_047427706.1:c.168C>G, XM_047427708.1:c.168C>T, XM_047427708.1:c.168C>G

Select item 144173156119.

rs1441731561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:29154901 (GRCh38)
1:29481413 (GRCh37)
Canonical SPDI:: NC_000001.11:29154900:G:A
Gene:: SRSF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.29154901G>A, NC_000001.10:g.29481413G>A, NM_005626.5:c.373C>T, NM_005626.4:c.373C>T, XM_011541951.4:c.373C>T, XM_011541951.3:c.373C>T, XM_011541951.2:c.373C>T, XM_011541951.1:c.373C>T, XM_047427706.1:c.310C>T, XM_047427708.1:c.310C>T, XM_047427714.1:c.4C>T, NP_005617.2:p.Arg125Cys, XP_011540253.1:p.Arg125Cys, XP_047283662.1:p.Arg104Cys, XP_047283664.1:p.Arg104Cys, XP_047283670.1:p.Arg2Cys

Select item 144003479020.

rs1440034790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:29148666 (GRCh38)
1:29475178 (GRCh37)
Canonical SPDI:: NC_000001.11:29148665:G:T
Gene:: SRSF4 (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)
HGVS:: NC_000001.11:g.29148666G>T, NC_000001.10:g.29475178G>T, NM_005626.5:c.1229C>A, NM_005626.4:c.1229C>A, XM_011541951.4:c.1139C>A, XM_011541951.3:c.1139C>A, XM_011541951.2:c.1139C>A, XM_011541951.1:c.1139C>A, XM_047427706.1:c.1166C>A, XM_047427708.1:c.1166C>A, XM_047427714.1:c.860C>A, NP_005617.2:p.Ser410Tyr, XP_011540253.1:p.Ser380Tyr, XP_047283662.1:p.Ser389Tyr, XP_047283664.1:p.Ser389Tyr, XP_047283670.1:p.Ser287Tyr

dbSNP

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