SNP Links for Protein (Select 59938772) - SNP

Links from Protein

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Select item 14890307921.

rs1489030792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:28570378 (GRCh38)
7:28609996 (GRCh37)
Canonical SPDI:: NC_000007.14:28570377:A:C,NC_000007.14:28570377:A:G
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.28570378A>C, NC_000007.14:g.28570378A>G, NC_000007.13:g.28609996A>C, NC_000007.13:g.28609996A>G, NM_182899.5:c.206A>C, NM_182899.5:c.206A>G, NM_182899.4:c.206A>C, NM_182899.4:c.206A>G, NM_182899.3:c.206A>C, NM_182899.3:c.206A>G, NM_182898.4:c.305A>C, NM_182898.4:c.305A>G, NM_182898.3:c.305A>C, NM_182898.3:c.305A>G, NM_182898.2:c.305A>C, NM_182898.2:c.305A>G, NM_004904.4:c.284A>C, NM_004904.4:c.284A>G, NM_004904.3:c.284A>C, NM_004904.3:c.284A>G, NM_004904.2:c.284A>C, NM_004904.2:c.284A>G, XM_017012807.2:c.392A>C, XM_017012807.2:c.392A>G, XM_017012807.1:c.392A>C, XM_017012807.1:c.392A>G, XM_017012808.2:c.305A>C, XM_017012808.2:c.305A>G, XM_017012808.1:c.305A>C, XM_017012808.1:c.305A>G, XM_017012806.2:c.284A>C, XM_017012806.2:c.284A>G, XM_017012806.1:c.284A>C, XM_017012806.1:c.284A>G, XM_005249906.2:c.284A>C, XM_005249906.2:c.284A>G, XM_005249906.1:c.284A>C, XM_005249906.1:c.284A>G, XM_024447005.2:c.206A>C, XM_024447005.2:c.206A>G, XM_024447005.1:c.206A>C, XM_024447005.1:c.206A>G, XM_047421067.1:c.284A>C, XM_047421067.1:c.284A>G, XM_047421068.1:c.284A>C, XM_047421068.1:c.284A>G, XM_047421069.1:c.284A>C, XM_047421069.1:c.284A>G, NP_878902.2:p.His69Pro, NP_878902.2:p.His69Arg, NP_878901.2:p.His102Pro, NP_878901.2:p.His102Arg, NP_004895.2:p.His95Pro, NP_004895.2:p.His95Arg, XP_016868296.1:p.His131Pro, XP_016868296.1:p.His131Arg, XP_016868297.1:p.His102Pro, XP_016868297.1:p.His102Arg, XP_016868295.1:p.His95Pro, XP_016868295.1:p.His95Arg, XP_005249963.1:p.His95Pro, XP_005249963.1:p.His95Arg, XP_024302773.1:p.His69Pro, XP_024302773.1:p.His69Arg, XP_047277023.1:p.His95Pro, XP_047277023.1:p.His95Arg, XP_047277024.1:p.His95Pro, XP_047277024.1:p.His95Arg, XP_047277025.1:p.His95Pro, XP_047277025.1:p.His95Arg

Select item 14842283572.

rs1484228357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:28718822 (GRCh38)
7:28758439 (GRCh37)
Canonical SPDI:: NC_000007.14:28718821:C:T
Gene:: CREB5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.28718822C>T, NC_000007.13:g.28758439C>T, NM_182899.5:c.435C>T, NM_182899.4:c.435C>T, NM_182899.3:c.435C>T, NM_182898.4:c.534C>T, NM_182898.3:c.534C>T, NM_182898.2:c.534C>T, NM_004904.4:c.513C>T, NM_004904.3:c.513C>T, NM_004904.2:c.513C>T, NM_001011666.3:c.117C>T, NM_001011666.2:c.117C>T, NM_001011666.1:c.117C>T, XM_017012807.2:c.621C>T, XM_017012807.1:c.621C>T, XM_017012808.2:c.534C>T, XM_017012808.1:c.534C>T, XM_017012806.2:c.513C>T, XM_017012806.1:c.513C>T, XM_005249906.2:c.513C>T, XM_005249906.1:c.513C>T, XM_024447005.2:c.435C>T, XM_024447005.1:c.435C>T, XM_047421067.1:c.513C>T, XM_047421068.1:c.513C>T, XM_047421069.1:c.513C>T, XM_047421070.1:c.117C>T

Select item 14828498163.

rs1482849816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:28718843 (GRCh38)
7:28758460 (GRCh37)
Canonical SPDI:: NC_000007.14:28718842:C:G
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28718843C>G, NC_000007.13:g.28758460C>G, NM_182899.5:c.456C>G, NM_182899.4:c.456C>G, NM_182899.3:c.456C>G, NM_182898.4:c.555C>G, NM_182898.3:c.555C>G, NM_182898.2:c.555C>G, NM_004904.4:c.534C>G, NM_004904.3:c.534C>G, NM_004904.2:c.534C>G, NM_001011666.3:c.138C>G, NM_001011666.2:c.138C>G, NM_001011666.1:c.138C>G, XM_017012807.2:c.642C>G, XM_017012807.1:c.642C>G, XM_017012808.2:c.555C>G, XM_017012808.1:c.555C>G, XM_017012806.2:c.534C>G, XM_017012806.1:c.534C>G, XM_005249906.2:c.534C>G, XM_005249906.1:c.534C>G, XM_024447005.2:c.456C>G, XM_024447005.1:c.456C>G, XM_047421067.1:c.534C>G, XM_047421068.1:c.534C>G, XM_047421069.1:c.534C>G, XM_047421070.1:c.138C>G, NP_878902.2:p.Asn152Lys, NP_878901.2:p.Asn185Lys, NP_004895.2:p.Asn178Lys, NP_001011666.1:p.Asn46Lys, XP_016868296.1:p.Asn214Lys, XP_016868297.1:p.Asn185Lys, XP_016868295.1:p.Asn178Lys, XP_005249963.1:p.Asn178Lys, XP_024302773.1:p.Asn152Lys, XP_047277023.1:p.Asn178Lys, XP_047277024.1:p.Asn178Lys, XP_047277025.1:p.Asn178Lys, XP_047277026.1:p.Asn46Lys

Select item 14821806284.

rs1482180628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:28809369 (GRCh38)
7:28848986 (GRCh37)
Canonical SPDI:: NC_000007.14:28809368:G:A
Gene:: CREB5 (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_000007.14:g.28809369G>A, NC_000007.13:g.28848986G>A, NM_182899.5:c.1110G>A, NM_182899.4:c.1110G>A, NM_182899.3:c.1110G>A, NM_182898.4:c.1209G>A, NM_182898.3:c.1209G>A, NM_182898.2:c.1209G>A, NM_004904.4:c.1188G>A, NM_004904.3:c.1188G>A, NM_004904.2:c.1188G>A, NM_001011666.3:c.792G>A, NM_001011666.2:c.792G>A, NM_001011666.1:c.792G>A, XM_017012807.2:c.1296G>A, XM_017012807.1:c.1296G>A, XM_017012808.2:c.1209G>A, XM_017012808.1:c.1209G>A, XM_017012806.2:c.1188G>A, XM_017012806.1:c.1188G>A, XM_005249906.2:c.1188G>A, XM_005249906.1:c.1188G>A, XM_024447005.2:c.1110G>A, XM_024447005.1:c.1110G>A, XM_047421067.1:c.1188G>A, XM_047421068.1:c.1188G>A, XM_047421069.1:c.1188G>A, XM_047421070.1:c.792G>A

Select item 14820935415.

rs1482093541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGC>- [Show Flanks]
Chromosome:: 7:28804231 (GRCh38)
7:28843848 (GRCh37)
Canonical SPDI:: NC_000007.14:28804226:CTGCTGC:CTGC
Gene:: CREB5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28804228TGC[1], NC_000007.13:g.28843845TGC[1], NM_182899.5:c.633TGC[1], NM_182899.4:c.633TGC[1], NM_182899.3:c.633TGC[1], NM_182898.4:c.732TGC[1], NM_182898.3:c.732TGC[1], NM_182898.2:c.732TGC[1], NM_004904.4:c.711TGC[1], NM_004904.3:c.711TGC[1], NM_004904.2:c.711TGC[1], NM_001011666.3:c.315TGC[1], NM_001011666.2:c.315TGC[1], NM_001011666.1:c.315TGC[1], XM_017012807.2:c.819TGC[1], XM_017012807.1:c.819TGC[1], XM_017012808.2:c.732TGC[1], XM_017012808.1:c.732TGC[1], XM_017012806.2:c.711TGC[1], XM_017012806.1:c.711TGC[1], XM_005249906.2:c.711TGC[1], XM_005249906.1:c.711TGC[1], XM_024447005.2:c.633TGC[1], XM_024447005.1:c.633TGC[1], XM_047421067.1:c.711TGC[1], XM_047421068.1:c.711TGC[1], XM_047421069.1:c.711TGC[1], XM_047421070.1:c.315TGC[1], NP_878902.2:p.Ala213del, NP_878901.2:p.Ala246del, NP_004895.2:p.Ala239del, NP_001011666.1:p.Ala107del, XP_016868296.1:p.Ala275del, XP_016868297.1:p.Ala246del, XP_016868295.1:p.Ala239del, XP_005249963.1:p.Ala239del, XP_024302773.1:p.Ala213del, XP_047277023.1:p.Ala239del, XP_047277024.1:p.Ala239del, XP_047277025.1:p.Ala239del, XP_047277026.1:p.Ala107del

Select item 14813679356.

rs1481367935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:28804387 (GRCh38)
7:28844004 (GRCh37)
Canonical SPDI:: NC_000007.14:28804386:A:T
Gene:: CREB5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28804387A>T, NC_000007.13:g.28844004A>T, NM_182899.5:c.792A>T, NM_182899.4:c.792A>T, NM_182899.3:c.792A>T, NM_182898.4:c.891A>T, NM_182898.3:c.891A>T, NM_182898.2:c.891A>T, NM_004904.4:c.870A>T, NM_004904.3:c.870A>T, NM_004904.2:c.870A>T, NM_001011666.3:c.474A>T, NM_001011666.2:c.474A>T, NM_001011666.1:c.474A>T, XM_017012807.2:c.978A>T, XM_017012807.1:c.978A>T, XM_017012808.2:c.891A>T, XM_017012808.1:c.891A>T, XM_017012806.2:c.870A>T, XM_017012806.1:c.870A>T, XM_005249906.2:c.870A>T, XM_005249906.1:c.870A>T, XM_024447005.2:c.792A>T, XM_024447005.1:c.792A>T, XM_047421067.1:c.870A>T, XM_047421068.1:c.870A>T, XM_047421069.1:c.870A>T, XM_047421070.1:c.474A>T

Select item 14798698377.

rs1479869837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:28809286 (GRCh38)
7:28848903 (GRCh37)
Canonical SPDI:: NC_000007.14:28809285:G:A
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28809286G>A, NC_000007.13:g.28848903G>A, NM_182899.5:c.1027G>A, NM_182899.4:c.1027G>A, NM_182899.3:c.1027G>A, NM_182898.4:c.1126G>A, NM_182898.3:c.1126G>A, NM_182898.2:c.1126G>A, NM_004904.4:c.1105G>A, NM_004904.3:c.1105G>A, NM_004904.2:c.1105G>A, NM_001011666.3:c.709G>A, NM_001011666.2:c.709G>A, NM_001011666.1:c.709G>A, XM_017012807.2:c.1213G>A, XM_017012807.1:c.1213G>A, XM_017012808.2:c.1126G>A, XM_017012808.1:c.1126G>A, XM_017012806.2:c.1105G>A, XM_017012806.1:c.1105G>A, XM_005249906.2:c.1105G>A, XM_005249906.1:c.1105G>A, XM_024447005.2:c.1027G>A, XM_024447005.1:c.1027G>A, XM_047421067.1:c.1105G>A, XM_047421068.1:c.1105G>A, XM_047421069.1:c.1105G>A, XM_047421070.1:c.709G>A, NP_878902.2:p.Glu343Lys, NP_878901.2:p.Glu376Lys, NP_004895.2:p.Glu369Lys, NP_001011666.1:p.Glu237Lys, XP_016868296.1:p.Glu405Lys, XP_016868297.1:p.Glu376Lys, XP_016868295.1:p.Glu369Lys, XP_005249963.1:p.Glu369Lys, XP_024302773.1:p.Glu343Lys, XP_047277023.1:p.Glu369Lys, XP_047277024.1:p.Glu369Lys, XP_047277025.1:p.Glu369Lys, XP_047277026.1:p.Glu237Lys

Select item 14790841108.

rs1479084110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:28570384 (GRCh38)
7:28610002 (GRCh37)
Canonical SPDI:: NC_000007.14:28570383:C:T
Gene:: CREB5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.28570384C>T, NC_000007.13:g.28610002C>T, NM_182899.5:c.212C>T, NM_182899.4:c.212C>T, NM_182899.3:c.212C>T, NM_182898.4:c.311C>T, NM_182898.3:c.311C>T, NM_182898.2:c.311C>T, NM_004904.4:c.290C>T, NM_004904.3:c.290C>T, NM_004904.2:c.290C>T, XM_017012807.2:c.398C>T, XM_017012807.1:c.398C>T, XM_017012808.2:c.311C>T, XM_017012808.1:c.311C>T, XM_017012806.2:c.290C>T, XM_017012806.1:c.290C>T, XM_005249906.2:c.290C>T, XM_005249906.1:c.290C>T, XM_024447005.2:c.212C>T, XM_024447005.1:c.212C>T, XM_047421067.1:c.290C>T, XM_047421068.1:c.290C>T, XM_047421069.1:c.290C>T, NP_878902.2:p.Ala71Val, NP_878901.2:p.Ala104Val, NP_004895.2:p.Ala97Val, XP_016868296.1:p.Ala133Val, XP_016868297.1:p.Ala104Val, XP_016868295.1:p.Ala97Val, XP_005249963.1:p.Ala97Val, XP_024302773.1:p.Ala71Val, XP_047277023.1:p.Ala97Val, XP_047277024.1:p.Ala97Val, XP_047277025.1:p.Ala97Val

Select item 14786372359.

rs1478637235 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCACCCTCAACCCCATCACCAGCAGAACCATCC>- [Show Flanks]
Chromosome:: 7:28804399 (GRCh38)
7:28844016 (GRCh37)
Canonical SPDI:: NC_000007.14:28804391:ACCATCCTCACCCTCAACCCCATCACCAGCAGAACCATCC:ACCATCC
Gene:: CREB5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: ACCATCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.28804399_28804431del, NC_000007.13:g.28844016_28844048del, NM_182899.5:c.804_836del, NM_182899.4:c.804_836del, NM_182899.3:c.804_836del, NM_182898.4:c.903_935del, NM_182898.3:c.903_935del, NM_182898.2:c.903_935del, NM_004904.4:c.882_914del, NM_004904.3:c.882_914del, NM_004904.2:c.882_914del, NM_001011666.3:c.486_518del, NM_001011666.2:c.486_518del, NM_001011666.1:c.486_518del, XM_017012807.2:c.990_1022del, XM_017012807.1:c.990_1022del, XM_017012808.2:c.903_935del, XM_017012808.1:c.903_935del, XM_017012806.2:c.882_914del, XM_017012806.1:c.882_914del, XM_005249906.2:c.882_914del, XM_005249906.1:c.882_914del, XM_024447005.2:c.804_836del, XM_024447005.1:c.804_836del, XM_047421067.1:c.882_914del, XM_047421068.1:c.882_914del, XM_047421069.1:c.882_914del, XM_047421070.1:c.486_518del, NP_878902.2:p.Pro270_His280del, NP_878901.2:p.Pro303_His313del, NP_004895.2:p.Pro296_His306del, NP_001011666.1:p.Pro164_His174del, XP_016868296.1:p.Pro332_His342del, XP_016868297.1:p.Pro303_His313del, XP_016868295.1:p.Pro296_His306del, XP_005249963.1:p.Pro296_His306del, XP_024302773.1:p.Pro270_His280del, XP_047277023.1:p.Pro296_His306del, XP_047277024.1:p.Pro296_His306del, XP_047277025.1:p.Pro296_His306del, XP_047277026.1:p.Pro164_His174del

Select item 147817905910.

rs1478179059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:28809364 (GRCh38)
7:28848981 (GRCh37)
Canonical SPDI:: NC_000007.14:28809363:T:C
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.28809364T>C, NC_000007.13:g.28848981T>C, NM_182899.5:c.1105T>C, NM_182899.4:c.1105T>C, NM_182899.3:c.1105T>C, NM_182898.4:c.1204T>C, NM_182898.3:c.1204T>C, NM_182898.2:c.1204T>C, NM_004904.4:c.1183T>C, NM_004904.3:c.1183T>C, NM_004904.2:c.1183T>C, NM_001011666.3:c.787T>C, NM_001011666.2:c.787T>C, NM_001011666.1:c.787T>C, XM_017012807.2:c.1291T>C, XM_017012807.1:c.1291T>C, XM_017012808.2:c.1204T>C, XM_017012808.1:c.1204T>C, XM_017012806.2:c.1183T>C, XM_017012806.1:c.1183T>C, XM_005249906.2:c.1183T>C, XM_005249906.1:c.1183T>C, XM_024447005.2:c.1105T>C, XM_024447005.1:c.1105T>C, XM_047421067.1:c.1183T>C, XM_047421068.1:c.1183T>C, XM_047421069.1:c.1183T>C, XM_047421070.1:c.787T>C, NP_878902.2:p.Ser369Pro, NP_878901.2:p.Ser402Pro, NP_004895.2:p.Ser395Pro, NP_001011666.1:p.Ser263Pro, XP_016868296.1:p.Ser431Pro, XP_016868297.1:p.Ser402Pro, XP_016868295.1:p.Ser395Pro, XP_005249963.1:p.Ser395Pro, XP_024302773.1:p.Ser369Pro, XP_047277023.1:p.Ser395Pro, XP_047277024.1:p.Ser395Pro, XP_047277025.1:p.Ser395Pro, XP_047277026.1:p.Ser263Pro

Select item 147585792511.

rs1475857925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:28804490 (GRCh38)
7:28844107 (GRCh37)
Canonical SPDI:: NC_000007.14:28804489:C:A,NC_000007.14:28804489:C:T
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.28804490C>A, NC_000007.14:g.28804490C>T, NC_000007.13:g.28844107C>A, NC_000007.13:g.28844107C>T, NM_182899.5:c.895C>A, NM_182899.5:c.895C>T, NM_182899.4:c.895C>A, NM_182899.4:c.895C>T, NM_182899.3:c.895C>A, NM_182899.3:c.895C>T, NM_182898.4:c.994C>A, NM_182898.4:c.994C>T, NM_182898.3:c.994C>A, NM_182898.3:c.994C>T, NM_182898.2:c.994C>A, NM_182898.2:c.994C>T, NM_004904.4:c.973C>A, NM_004904.4:c.973C>T, NM_004904.3:c.973C>A, NM_004904.3:c.973C>T, NM_004904.2:c.973C>A, NM_004904.2:c.973C>T, NM_001011666.3:c.577C>A, NM_001011666.3:c.577C>T, NM_001011666.2:c.577C>A, NM_001011666.2:c.577C>T, NM_001011666.1:c.577C>A, NM_001011666.1:c.577C>T, XM_017012807.2:c.1081C>A, XM_017012807.2:c.1081C>T, XM_017012807.1:c.1081C>A, XM_017012807.1:c.1081C>T, XM_017012808.2:c.994C>A, XM_017012808.2:c.994C>T, XM_017012808.1:c.994C>A, XM_017012808.1:c.994C>T, XM_017012806.2:c.973C>A, XM_017012806.2:c.973C>T, XM_017012806.1:c.973C>A, XM_017012806.1:c.973C>T, XM_005249906.2:c.973C>A, XM_005249906.2:c.973C>T, XM_005249906.1:c.973C>A, XM_005249906.1:c.973C>T, XM_024447005.2:c.895C>A, XM_024447005.2:c.895C>T, XM_024447005.1:c.895C>A, XM_024447005.1:c.895C>T, XM_047421067.1:c.973C>A, XM_047421067.1:c.973C>T, XM_047421068.1:c.973C>A, XM_047421068.1:c.973C>T, XM_047421069.1:c.973C>A, XM_047421069.1:c.973C>T, XM_047421070.1:c.577C>A, XM_047421070.1:c.577C>T, NP_878902.2:p.His299Asn, NP_878902.2:p.His299Tyr, NP_878901.2:p.His332Asn, NP_878901.2:p.His332Tyr, NP_004895.2:p.His325Asn, NP_004895.2:p.His325Tyr, NP_001011666.1:p.His193Asn, NP_001011666.1:p.His193Tyr, XP_016868296.1:p.His361Asn, XP_016868296.1:p.His361Tyr, XP_016868297.1:p.His332Asn, XP_016868297.1:p.His332Tyr, XP_016868295.1:p.His325Asn, XP_016868295.1:p.His325Tyr, XP_005249963.1:p.His325Asn, XP_005249963.1:p.His325Tyr, XP_024302773.1:p.His299Asn, XP_024302773.1:p.His299Tyr, XP_047277023.1:p.His325Asn, XP_047277023.1:p.His325Tyr, XP_047277024.1:p.His325Asn, XP_047277024.1:p.His325Tyr, XP_047277025.1:p.His325Asn, XP_047277025.1:p.His325Tyr, XP_047277026.1:p.His193Asn, XP_047277026.1:p.His193Tyr

Select item 147441596012.

rs1474415960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:28494938 (GRCh38)
7:28534556 (GRCh37)
Canonical SPDI:: NC_000007.14:28494937:T:C
Gene:: CREB5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28494938T>C, NC_000007.13:g.28534556T>C, NM_182899.5:c.9T>C, NM_182899.4:c.9T>C, NM_182899.3:c.9T>C, NM_182898.4:c.108T>C, NM_182898.3:c.108T>C, NM_182898.2:c.108T>C, NM_004904.4:c.87T>C, NM_004904.3:c.87T>C, NM_004904.2:c.87T>C, XM_017012807.2:c.195T>C, XM_017012807.1:c.195T>C, XM_017012808.2:c.108T>C, XM_017012808.1:c.108T>C, XM_017012806.2:c.87T>C, XM_017012806.1:c.87T>C, XM_005249906.2:c.87T>C, XM_005249906.1:c.87T>C, XM_024447005.2:c.9T>C, XM_024447005.1:c.9T>C, XM_047421067.1:c.87T>C, XM_047421068.1:c.87T>C, XM_047421069.1:c.87T>C

Select item 147049697113.

rs1470496971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:28804319 (GRCh38)
7:28843936 (GRCh37)
Canonical SPDI:: NC_000007.14:28804318:C:T
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28804319C>T, NC_000007.13:g.28843936C>T, NM_182899.5:c.724C>T, NM_182899.4:c.724C>T, NM_182899.3:c.724C>T, NM_182898.4:c.823C>T, NM_182898.3:c.823C>T, NM_182898.2:c.823C>T, NM_004904.4:c.802C>T, NM_004904.3:c.802C>T, NM_004904.2:c.802C>T, NM_001011666.3:c.406C>T, NM_001011666.2:c.406C>T, NM_001011666.1:c.406C>T, XM_017012807.2:c.910C>T, XM_017012807.1:c.910C>T, XM_017012808.2:c.823C>T, XM_017012808.1:c.823C>T, XM_017012806.2:c.802C>T, XM_017012806.1:c.802C>T, XM_005249906.2:c.802C>T, XM_005249906.1:c.802C>T, XM_024447005.2:c.724C>T, XM_024447005.1:c.724C>T, XM_047421067.1:c.802C>T, XM_047421068.1:c.802C>T, XM_047421069.1:c.802C>T, XM_047421070.1:c.406C>T, NP_878902.2:p.His242Tyr, NP_878901.2:p.His275Tyr, NP_004895.2:p.His268Tyr, NP_001011666.1:p.His136Tyr, XP_016868296.1:p.His304Tyr, XP_016868297.1:p.His275Tyr, XP_016868295.1:p.His268Tyr, XP_005249963.1:p.His268Tyr, XP_024302773.1:p.His242Tyr, XP_047277023.1:p.His268Tyr, XP_047277024.1:p.His268Tyr, XP_047277025.1:p.His268Tyr, XP_047277026.1:p.His136Tyr

Select item 146513405714.

rs1465134057 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:28804396 (GRCh38)
7:28844013 (GRCh37)
Canonical SPDI:: NC_000007.14:28804395:T:A
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28804396T>A, NC_000007.13:g.28844013T>A, NM_182899.5:c.801T>A, NM_182899.4:c.801T>A, NM_182899.3:c.801T>A, NM_182898.4:c.900T>A, NM_182898.3:c.900T>A, NM_182898.2:c.900T>A, NM_004904.4:c.879T>A, NM_004904.3:c.879T>A, NM_004904.2:c.879T>A, NM_001011666.3:c.483T>A, NM_001011666.2:c.483T>A, NM_001011666.1:c.483T>A, XM_017012807.2:c.987T>A, XM_017012807.1:c.987T>A, XM_017012808.2:c.900T>A, XM_017012808.1:c.900T>A, XM_017012806.2:c.879T>A, XM_017012806.1:c.879T>A, XM_005249906.2:c.879T>A, XM_005249906.1:c.879T>A, XM_024447005.2:c.801T>A, XM_024447005.1:c.801T>A, XM_047421067.1:c.879T>A, XM_047421068.1:c.879T>A, XM_047421069.1:c.879T>A, XM_047421070.1:c.483T>A, NP_878902.2:p.His267Gln, NP_878901.2:p.His300Gln, NP_004895.2:p.His293Gln, NP_001011666.1:p.His161Gln, XP_016868296.1:p.His329Gln, XP_016868297.1:p.His300Gln, XP_016868295.1:p.His293Gln, XP_005249963.1:p.His293Gln, XP_024302773.1:p.His267Gln, XP_047277023.1:p.His293Gln, XP_047277024.1:p.His293Gln, XP_047277025.1:p.His293Gln, XP_047277026.1:p.His161Gln

Select item 146281119215.

rs1462811192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:28809217 (GRCh38)
7:28848834 (GRCh37)
Canonical SPDI:: NC_000007.14:28809216:A:C,NC_000007.14:28809216:A:G
Gene:: CREB5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000016/4 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
C=0.005459/10 (Korea1K)
HGVS:: NC_000007.14:g.28809217A>C, NC_000007.14:g.28809217A>G, NC_000007.13:g.28848834A>C, NC_000007.13:g.28848834A>G, NM_182899.5:c.958A>C, NM_182899.5:c.958A>G, NM_182899.4:c.958A>C, NM_182899.4:c.958A>G, NM_182899.3:c.958A>C, NM_182899.3:c.958A>G, NM_182898.4:c.1057A>C, NM_182898.4:c.1057A>G, NM_182898.3:c.1057A>C, NM_182898.3:c.1057A>G, NM_182898.2:c.1057A>C, NM_182898.2:c.1057A>G, NM_004904.4:c.1036A>C, NM_004904.4:c.1036A>G, NM_004904.3:c.1036A>C, NM_004904.3:c.1036A>G, NM_004904.2:c.1036A>C, NM_004904.2:c.1036A>G, NM_001011666.3:c.640A>C, NM_001011666.3:c.640A>G, NM_001011666.2:c.640A>C, NM_001011666.2:c.640A>G, NM_001011666.1:c.640A>C, NM_001011666.1:c.640A>G, XM_017012807.2:c.1144A>C, XM_017012807.2:c.1144A>G, XM_017012807.1:c.1144A>C, XM_017012807.1:c.1144A>G, XM_017012808.2:c.1057A>C, XM_017012808.2:c.1057A>G, XM_017012808.1:c.1057A>C, XM_017012808.1:c.1057A>G, XM_017012806.2:c.1036A>C, XM_017012806.2:c.1036A>G, XM_017012806.1:c.1036A>C, XM_017012806.1:c.1036A>G, XM_005249906.2:c.1036A>C, XM_005249906.2:c.1036A>G, XM_005249906.1:c.1036A>C, XM_005249906.1:c.1036A>G, XM_024447005.2:c.958A>C, XM_024447005.2:c.958A>G, XM_024447005.1:c.958A>C, XM_024447005.1:c.958A>G, XM_047421067.1:c.1036A>C, XM_047421067.1:c.1036A>G, XM_047421068.1:c.1036A>C, XM_047421068.1:c.1036A>G, XM_047421069.1:c.1036A>C, XM_047421069.1:c.1036A>G, XM_047421070.1:c.640A>C, XM_047421070.1:c.640A>G, NP_878902.2:p.Thr320Pro, NP_878902.2:p.Thr320Ala, NP_878901.2:p.Thr353Pro, NP_878901.2:p.Thr353Ala, NP_004895.2:p.Thr346Pro, NP_004895.2:p.Thr346Ala, NP_001011666.1:p.Thr214Pro, NP_001011666.1:p.Thr214Ala, XP_016868296.1:p.Thr382Pro, XP_016868296.1:p.Thr382Ala, XP_016868297.1:p.Thr353Pro, XP_016868297.1:p.Thr353Ala, XP_016868295.1:p.Thr346Pro, XP_016868295.1:p.Thr346Ala, XP_005249963.1:p.Thr346Pro, XP_005249963.1:p.Thr346Ala, XP_024302773.1:p.Thr320Pro, XP_024302773.1:p.Thr320Ala, XP_047277023.1:p.Thr346Pro, XP_047277023.1:p.Thr346Ala, XP_047277024.1:p.Thr346Pro, XP_047277024.1:p.Thr346Ala, XP_047277025.1:p.Thr346Pro, XP_047277025.1:p.Thr346Ala, XP_047277026.1:p.Thr214Pro, XP_047277026.1:p.Thr214Ala

Select item 145822825316.

rs1458228253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:28804277 (GRCh38)
7:28843894 (GRCh37)
Canonical SPDI:: NC_000007.14:28804276:A:T
Gene:: CREB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.28804277A>T, NC_000007.13:g.28843894A>T, NM_182899.5:c.682A>T, NM_182899.4:c.682A>T, NM_182899.3:c.682A>T, NM_182898.4:c.781A>T, NM_182898.3:c.781A>T, NM_182898.2:c.781A>T, NM_004904.4:c.760A>T, NM_004904.3:c.760A>T, NM_004904.2:c.760A>T, NM_001011666.3:c.364A>T, NM_001011666.2:c.364A>T, NM_001011666.1:c.364A>T, XM_017012807.2:c.868A>T, XM_017012807.1:c.868A>T, XM_017012808.2:c.781A>T, XM_017012808.1:c.781A>T, XM_017012806.2:c.760A>T, XM_017012806.1:c.760A>T, XM_005249906.2:c.760A>T, XM_005249906.1:c.760A>T, XM_024447005.2:c.682A>T, XM_024447005.1:c.682A>T, XM_047421067.1:c.760A>T, XM_047421068.1:c.760A>T, XM_047421069.1:c.760A>T, XM_047421070.1:c.364A>T, NP_878902.2:p.Met228Leu, NP_878901.2:p.Met261Leu, NP_004895.2:p.Met254Leu, NP_001011666.1:p.Met122Leu, XP_016868296.1:p.Met290Leu, XP_016868297.1:p.Met261Leu, XP_016868295.1:p.Met254Leu, XP_005249963.1:p.Met254Leu, XP_024302773.1:p.Met228Leu, XP_047277023.1:p.Met254Leu, XP_047277024.1:p.Met254Leu, XP_047277025.1:p.Met254Leu, XP_047277026.1:p.Met122Leu

Select item 145704070017.

rs1457040700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:28804312 (GRCh38)
7:28843929 (GRCh37)
Canonical SPDI:: NC_000007.14:28804311:T:A
Gene:: CREB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.28804312T>A, NC_000007.13:g.28843929T>A, NM_182899.5:c.717T>A, NM_182899.4:c.717T>A, NM_182899.3:c.717T>A, NM_182898.4:c.816T>A, NM_182898.3:c.816T>A, NM_182898.2:c.816T>A, NM_004904.4:c.795T>A, NM_004904.3:c.795T>A, NM_004904.2:c.795T>A, NM_001011666.3:c.399T>A, NM_001011666.2:c.399T>A, NM_001011666.1:c.399T>A, XM_017012807.2:c.903T>A, XM_017012807.1:c.903T>A, XM_017012808.2:c.816T>A, XM_017012808.1:c.816T>A, XM_017012806.2:c.795T>A, XM_017012806.1:c.795T>A, XM_005249906.2:c.795T>A, XM_005249906.1:c.795T>A, XM_024447005.2:c.717T>A, XM_024447005.1:c.717T>A, XM_047421067.1:c.795T>A, XM_047421068.1:c.795T>A, XM_047421069.1:c.795T>A, XM_047421070.1:c.399T>A, NP_878902.2:p.His239Gln, NP_878901.2:p.His272Gln, NP_004895.2:p.His265Gln, NP_001011666.1:p.His133Gln, XP_016868296.1:p.His301Gln, XP_016868297.1:p.His272Gln, XP_016868295.1:p.His265Gln, XP_005249963.1:p.His265Gln, XP_024302773.1:p.His239Gln, XP_047277023.1:p.His265Gln, XP_047277024.1:p.His265Gln, XP_047277025.1:p.His265Gln, XP_047277026.1:p.His133Gln

Select item 145626405318.

rs1456264053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:28507705 (GRCh38)
7:28547323 (GRCh37)
Canonical SPDI:: NC_000007.14:28507704:A:G
Gene:: CREB5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.28507705A>G, NC_000007.13:g.28547323A>G, NM_182899.5:c.160A>G, NM_182899.4:c.160A>G, NM_182899.3:c.160A>G, NM_182898.4:c.259A>G, NM_182898.3:c.259A>G, NM_182898.2:c.259A>G, NM_004904.4:c.238A>G, NM_004904.3:c.238A>G, NM_004904.2:c.238A>G, XM_017012807.2:c.346A>G, XM_017012807.1:c.346A>G, XM_017012808.2:c.259A>G, XM_017012808.1:c.259A>G, XM_017012806.2:c.238A>G, XM_017012806.1:c.238A>G, XM_005249906.2:c.238A>G, XM_005249906.1:c.238A>G, XM_024447005.2:c.160A>G, XM_024447005.1:c.160A>G, XM_047421067.1:c.238A>G, XM_047421068.1:c.238A>G, XM_047421069.1:c.238A>G, NP_878902.2:p.Arg54Gly, NP_878901.2:p.Arg87Gly, NP_004895.2:p.Arg80Gly, XP_016868296.1:p.Arg116Gly, XP_016868297.1:p.Arg87Gly, XP_016868295.1:p.Arg80Gly, XP_005249963.1:p.Arg80Gly, XP_024302773.1:p.Arg54Gly, XP_047277023.1:p.Arg80Gly, XP_047277024.1:p.Arg80Gly, XP_047277025.1:p.Arg80Gly

Select item 145098577219.

rs1450985772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:28818096 (GRCh38)
7:28857713 (GRCh37)
Canonical SPDI:: NC_000007.14:28818095:A:T
Gene:: CREB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.28818096A>T, NC_000007.13:g.28857713A>T, NM_182899.5:c.1181A>T, NM_182899.4:c.1181A>T, NM_182899.3:c.1181A>T, NM_182898.4:c.1280A>T, NM_182898.3:c.1280A>T, NM_182898.2:c.1280A>T, NM_004904.4:c.1259A>T, NM_004904.3:c.1259A>T, NM_004904.2:c.1259A>T, NM_001011666.3:c.863A>T, NM_001011666.2:c.863A>T, NM_001011666.1:c.863A>T, XM_017012807.2:c.1367A>T, XM_017012807.1:c.1367A>T, XM_017012808.2:c.1280A>T, XM_017012808.1:c.1280A>T, XM_017012806.2:c.1259A>T, XM_017012806.1:c.1259A>T, XM_005249906.2:c.1259A>T, XM_005249906.1:c.1259A>T, XM_024447005.2:c.1181A>T, XM_024447005.1:c.1181A>T, XM_047421067.1:c.1259A>T, XM_047421068.1:c.1259A>T, XM_047421069.1:c.1259A>T, XM_047421070.1:c.863A>T, NP_878902.2:p.Glu394Val, NP_878901.2:p.Glu427Val, NP_004895.2:p.Glu420Val, NP_001011666.1:p.Glu288Val, XP_016868296.1:p.Glu456Val, XP_016868297.1:p.Glu427Val, XP_016868295.1:p.Glu420Val, XP_005249963.1:p.Glu420Val, XP_024302773.1:p.Glu394Val, XP_047277023.1:p.Glu420Val, XP_047277024.1:p.Glu420Val, XP_047277025.1:p.Glu420Val, XP_047277026.1:p.Glu288Val

Select item 144819691520.

rs1448196915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:28570407 (GRCh38)
7:28610025 (GRCh37)
Canonical SPDI:: NC_000007.14:28570406:C:T
Gene:: CREB5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.28570407C>T, NC_000007.13:g.28610025C>T, NM_182899.5:c.235C>T, NM_182899.4:c.235C>T, NM_182899.3:c.235C>T, NM_182898.4:c.334C>T, NM_182898.3:c.334C>T, NM_182898.2:c.334C>T, NM_004904.4:c.313C>T, NM_004904.3:c.313C>T, NM_004904.2:c.313C>T, XM_017012807.2:c.421C>T, XM_017012807.1:c.421C>T, XM_017012808.2:c.334C>T, XM_017012808.1:c.334C>T, XM_017012806.2:c.313C>T, XM_017012806.1:c.313C>T, XM_005249906.2:c.313C>T, XM_005249906.1:c.313C>T, XM_024447005.2:c.235C>T, XM_024447005.1:c.235C>T, XM_047421067.1:c.313C>T, XM_047421068.1:c.313C>T, XM_047421069.1:c.313C>T, NP_878902.2:p.Pro79Ser, NP_878901.2:p.Pro112Ser, NP_004895.2:p.Pro105Ser, XP_016868296.1:p.Pro141Ser, XP_016868297.1:p.Pro112Ser, XP_016868295.1:p.Pro105Ser, XP_005249963.1:p.Pro105Ser, XP_024302773.1:p.Pro79Ser, XP_047277023.1:p.Pro105Ser, XP_047277024.1:p.Pro105Ser, XP_047277025.1:p.Pro105Ser

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