SNP Links for Protein (Select 4759212) - SNP

Links from Protein

Items: 1 to 20 of 102

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Select item 14784630391.

rs1478463039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:77708293 (GRCh38)
5:77004118 (GRCh37)
Canonical SPDI:: NC_000005.10:77708292:C:A,NC_000005.10:77708292:C:G
Gene:: TBCA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.77708293C>A, NC_000005.10:g.77708293C>G, NC_000005.9:g.77004118C>A, NC_000005.9:g.77004118C>G, NM_004607.3:c.108G>T, NM_004607.3:c.108G>C, NM_004607.2:c.108G>T, NM_004607.2:c.108G>C, NM_001297738.2:c.108G>T, NM_001297738.2:c.108G>C, NM_001297738.1:c.108G>T, NM_001297738.1:c.108G>C, NM_001297740.2:c.108G>T, NM_001297740.2:c.108G>C, NM_001297740.1:c.108G>T, NM_001297740.1:c.108G>C, NP_004598.1:p.Lys36Asn, NP_004598.1:p.Lys36Asn, NP_001284667.1:p.Lys36Asn, NP_001284667.1:p.Lys36Asn, NP_001284669.1:p.Lys36Asn, NP_001284669.1:p.Lys36Asn

Select item 14652748272.

rs1465274827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77776249 (GRCh38)
5:77072073 (GRCh37)
Canonical SPDI:: NC_000005.10:77776248:A:G
Gene:: TBCA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77776249A>G, NC_000005.9:g.77072073A>G, NM_004607.3:c.9T>C, NM_004607.2:c.9T>C, NM_001297738.2:c.9T>C, NM_001297738.1:c.9T>C, NM_001297740.2:c.9T>C, NM_001297740.1:c.9T>C

Select item 14422519713.

rs1442251971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:77693343 (GRCh38)
5:76989168 (GRCh37)
Canonical SPDI:: NC_000005.10:77693342:G:A
Gene:: TBCA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77693343G>A, NC_000005.9:g.76989168G>A, NM_004607.3:c.169C>T, NM_004607.2:c.169C>T, NM_001297738.2:c.169C>T, NM_001297738.1:c.169C>T

Select item 14264647374.

rs1426464737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:77693337 (GRCh38)
5:76989162 (GRCh37)
Canonical SPDI:: NC_000005.10:77693336:C:T
Gene:: TBCA (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77693337C>T, NC_000005.9:g.76989162C>T, NM_004607.3:c.175G>A, NM_004607.2:c.175G>A, NM_001297738.2:c.175G>A, NM_001297738.1:c.175G>A, NP_004598.1:p.Glu59Lys, NP_001284667.1:p.Glu59Lys

Select item 14254579765.

rs1425457976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:77776224 (GRCh38)
5:77072048 (GRCh37)
Canonical SPDI:: NC_000005.10:77776223:T:C
Gene:: TBCA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.77776224T>C, NC_000005.9:g.77072048T>C, NM_004607.3:c.34A>G, NM_004607.2:c.34A>G, NM_001297738.2:c.34A>G, NM_001297738.1:c.34A>G, NM_001297740.2:c.34A>G, NM_001297740.1:c.34A>G, NP_004598.1:p.Lys12Glu, NP_001284667.1:p.Lys12Glu, NP_001284669.1:p.Lys12Glu

Select item 14076126006.

rs1407612600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:77691431 (GRCh38)
5:76987256 (GRCh37)
Canonical SPDI:: NC_000005.10:77691430:T:A
Gene:: TBCA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77691431T>A, NC_000005.9:g.76987256T>A, NM_004607.3:c.314A>T, NM_004607.2:c.314A>T, NM_001297738.2:c.*1691A>T, NM_001297738.1:c.*1691A>T, NM_001297740.2:c.227A>T, NM_001297740.1:c.227A>T, NP_004598.1:p.Lys105Met, NP_001284669.1:p.Lys76Met

Select item 14023091887.

rs1402309188 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:77708317 (GRCh38)
5:77004142 (GRCh37)
Canonical SPDI:: NC_000005.10:77708316:TTTTT:TTTT
Gene:: TBCA (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000005.10:g.77708321del, NC_000005.9:g.77004146del, NM_004607.3:c.84del, NM_004607.2:c.84del, NM_001297738.2:c.84del, NM_001297738.1:c.84del, NM_001297740.2:c.84del, NM_001297740.1:c.84del, NP_004598.1:p.Glu29fs, NP_001284667.1:p.Glu29fs, NP_001284669.1:p.Glu29fs

Select item 14009693578.

rs1400969357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77708282 (GRCh38)
5:77004107 (GRCh37)
Canonical SPDI:: NC_000005.10:77708281:A:G
Gene:: TBCA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77708282A>G, NC_000005.9:g.77004107A>G, NM_004607.3:c.119T>C, NM_004607.2:c.119T>C, NM_001297738.2:c.119T>C, NM_001297738.1:c.119T>C, NM_001297740.2:c.119T>C, NM_001297740.1:c.119T>C, NP_004598.1:p.Met40Thr, NP_001284667.1:p.Met40Thr, NP_001284669.1:p.Met40Thr

Select item 14004135779.

rs1400413577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:77691448 (GRCh38)
5:76987273 (GRCh37)
Canonical SPDI:: NC_000005.10:77691447:T:C
Gene:: TBCA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77691448T>C, NC_000005.9:g.76987273T>C, NM_004607.3:c.297A>G, NM_004607.2:c.297A>G, NM_001297738.2:c.*1674A>G, NM_001297738.1:c.*1674A>G, NM_001297740.2:c.210A>G, NM_001297740.1:c.210A>G

Select item 139287156810.

rs1392871568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:77693292 (GRCh38)
5:76989117 (GRCh37)
Canonical SPDI:: NC_000005.10:77693291:C:T
Gene:: TBCA (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77693292C>T, NC_000005.9:g.76989117C>T, NM_004607.3:c.220G>A, NM_004607.2:c.220G>A, NM_001297738.2:c.220G>A, NM_001297738.1:c.220G>A, NP_004598.1:p.Ala74Thr, NP_001284667.1:p.Ala74Thr

Select item 138360598111.

rs1383605981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:77691436 (GRCh38)
5:76987261 (GRCh37)
Canonical SPDI:: NC_000005.10:77691435:T:C,NC_000005.10:77691435:T:G
Gene:: TBCA (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77691436T>C, NC_000005.10:g.77691436T>G, NC_000005.9:g.76987261T>C, NC_000005.9:g.76987261T>G, NM_004607.3:c.309A>G, NM_004607.3:c.309A>C, NM_004607.2:c.309A>G, NM_004607.2:c.309A>C, NM_001297738.2:c.*1686A>G, NM_001297738.2:c.*1686A>C, NM_001297738.1:c.*1686A>G, NM_001297738.1:c.*1686A>C, NM_001297740.2:c.222A>G, NM_001297740.2:c.222A>C, NM_001297740.1:c.222A>G, NM_001297740.1:c.222A>C

Select item 138066498212.

rs1380664982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77708346 (GRCh38)
5:77004171 (GRCh37)
Canonical SPDI:: NC_000005.10:77708345:A:G
Gene:: TBCA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77708346A>G, NC_000005.9:g.77004171A>G, NM_004607.3:c.55T>C, NM_004607.2:c.55T>C, NM_001297738.2:c.55T>C, NM_001297738.1:c.55T>C, NM_001297740.2:c.55T>C, NM_001297740.1:c.55T>C

Select item 137914364913.

rs1379143649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:77776240 (GRCh38)
5:77072064 (GRCh37)
Canonical SPDI:: NC_000005.10:77776239:C:T
Gene:: TBCA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.77776240C>T, NC_000005.9:g.77072064C>T, NM_004607.3:c.18G>A, NM_004607.2:c.18G>A, NM_001297738.2:c.18G>A, NM_001297738.1:c.18G>A, NM_001297740.2:c.18G>A, NM_001297740.1:c.18G>A

Select item 137718973214.

rs1377189732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:77708292 (GRCh38)
5:77004117 (GRCh37)
Canonical SPDI:: NC_000005.10:77708291:T:A
Gene:: TBCA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.77708292T>A, NC_000005.9:g.77004117T>A, NM_004607.3:c.109A>T, NM_004607.2:c.109A>T, NM_001297738.2:c.109A>T, NM_001297738.1:c.109A>T, NM_001297740.2:c.109A>T, NM_001297740.1:c.109A>T, NP_004598.1:p.Ile37Phe, NP_001284667.1:p.Ile37Phe, NP_001284669.1:p.Ile37Phe

Select item 137495786215.

rs1374957862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:77691426 (GRCh38)
5:76987251 (GRCh37)
Canonical SPDI:: NC_000005.10:77691425:C:T
Gene:: TBCA (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000005.10:g.77691426C>T, NC_000005.9:g.76987251C>T, NM_004607.3:c.319G>A, NM_004607.2:c.319G>A, NM_001297738.2:c.*1696G>A, NM_001297738.1:c.*1696G>A, NM_001297740.2:c.232G>A, NM_001297740.1:c.232G>A, NP_004598.1:p.Glu107Lys, NP_001284669.1:p.Glu78Lys

Select item 137285353716.

rs1372853537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:77693282 (GRCh38)
5:76989107 (GRCh37)
Canonical SPDI:: NC_000005.10:77693281:T:A
Gene:: TBCA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.77693282T>A, NC_000005.9:g.76989107T>A, NM_004607.3:c.230A>T, NM_004607.2:c.230A>T, NM_001297738.2:c.230A>T, NM_001297738.1:c.230A>T, NP_004598.1:p.Asp77Val, NP_001284667.1:p.Asp77Val

Select item 133379999617.

rs1333799996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:77693290 (GRCh38)
5:76989115 (GRCh37)
Canonical SPDI:: NC_000005.10:77693289:T:C
Gene:: TBCA (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77693290T>C, NC_000005.9:g.76989115T>C, NM_004607.3:c.222A>G, NM_004607.2:c.222A>G, NM_001297738.2:c.222A>G, NM_001297738.1:c.222A>G

Select item 133182260318.

rs1331822603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:77708313 (GRCh38)
5:77004138 (GRCh37)
Canonical SPDI:: NC_000005.10:77708312:C:T
Gene:: TBCA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.77708313C>T, NC_000005.9:g.77004138C>T, NM_004607.3:c.88G>A, NM_004607.2:c.88G>A, NM_001297738.2:c.88G>A, NM_001297738.1:c.88G>A, NM_001297740.2:c.88G>A, NM_001297740.1:c.88G>A, NP_004598.1:p.Ala30Thr, NP_001284667.1:p.Ala30Thr, NP_001284669.1:p.Ala30Thr

Select item 133124623319.

rs1331246233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77708327 (GRCh38)
5:77004152 (GRCh37)
Canonical SPDI:: NC_000005.10:77708326:A:G
Gene:: TBCA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.77708327A>G, NC_000005.9:g.77004152A>G, NM_004607.3:c.74T>C, NM_004607.2:c.74T>C, NM_001297738.2:c.74T>C, NM_001297738.1:c.74T>C, NM_001297740.2:c.74T>C, NM_001297740.1:c.74T>C, NP_004598.1:p.Met25Thr, NP_001284667.1:p.Met25Thr, NP_001284669.1:p.Met25Thr

Select item 132321576920.

rs1323215769 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 5:77708301 (GRCh38)
5:77004126 (GRCh37)
Canonical SPDI:: NC_000005.10:77708295:TTCTTCTT:TTCTT
Gene:: TBCA (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77708298CTT[1], NC_000005.9:g.77004123CTT[1], NM_004607.3:c.100GAA[1], NM_004607.2:c.100GAA[1], NM_001297738.2:c.100GAA[1], NM_001297738.1:c.100GAA[1], NM_001297740.2:c.100GAA[1], NM_001297740.1:c.100GAA[1], NP_004598.1:p.Glu35del, NP_001284667.1:p.Glu35del, NP_001284669.1:p.Glu35del

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