SNP Links for Protein (Select 310832431) - SNP

Variant type:: DELINS
Alleles:: ->ACAG [Show Flanks]
Chromosome:: 11:120327436 (GRCh38)
11:120198146 (GRCh37)
Canonical SPDI:: NC_000011.10:120327436:ACAG:ACAGACAG
Gene:: TLCD5 (Varview)
Functional Consequence:: splice_acceptor_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGACAG=0./0 (ALFA)
ACAG=0.000011/3 (TOPMED)
ACAG=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.120327437_120327440dup, NC_000011.9:g.120198146_120198149dup, NM_174926.3:c.62_65dup, NM_174926.2:c.62_65dup, NM_001198670.2:c.62_65dup, NM_001198670.1:c.62_65dup, NP_777586.1:p.Met23fs, NP_001185599.1:p.Met23fs

Select item 143628709217.

rs1436287092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:120330191 (GRCh38)
11:120200900 (GRCh37)
Canonical SPDI:: NC_000011.10:120330190:C:T
Gene:: TLCD5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.120330191C>T, NC_000011.9:g.120200900C>T, NM_001198670.2:c.480C>T, NM_001198670.1:c.480C>T, NM_001198671.2:c.414C>T, NM_001198671.1:c.414C>T, NM_001198672.2:c.111C>T, NM_001198672.1:c.111C>T, NM_001198673.2:c.111C>T, NM_001198673.1:c.111C>T, NM_001198675.2:c.111C>T, NM_001198675.1:c.111C>T

Select item 143573315718.

rs1435733157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:120330399 (GRCh38)
11:120201108 (GRCh37)
Canonical SPDI:: NC_000011.10:120330398:A:T
Gene:: TLCD5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.120330399A>T, NC_000011.9:g.120201108A>T, NM_001198670.2:c.688A>T, NM_001198670.1:c.688A>T, NM_001198671.2:c.622A>T, NM_001198671.1:c.622A>T, NM_001198672.2:c.319A>T, NM_001198672.1:c.319A>T, NM_001198673.2:c.319A>T, NM_001198673.1:c.319A>T, NM_001198675.2:c.319A>T, NM_001198675.1:c.319A>T, NP_001185599.1:p.Met230Leu, NP_001185600.1:p.Met208Leu, NP_001185601.1:p.Met107Leu, NP_001185602.1:p.Met107Leu, NP_001185604.1:p.Met107Leu

Select item 143503264919.

rs1435032649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:120330292 (GRCh38)
11:120201001 (GRCh37)
Canonical SPDI:: NC_000011.10:120330291:G:A
Gene:: TLCD5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.120330292G>A, NC_000011.9:g.120201001G>A, NM_001198670.2:c.581G>A, NM_001198670.1:c.581G>A, NM_001198671.2:c.515G>A, NM_001198671.1:c.515G>A, NM_001198672.2:c.212G>A, NM_001198672.1:c.212G>A, NM_001198673.2:c.212G>A, NM_001198673.1:c.212G>A, NM_001198675.2:c.212G>A, NM_001198675.1:c.212G>A, NP_001185599.1:p.Arg194Lys, NP_001185600.1:p.Arg172Lys, NP_001185601.1:p.Arg71Lys, NP_001185602.1:p.Arg71Lys, NP_001185604.1:p.Arg71Lys

Select item 143351538920.

rs1433515389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:120330049 (GRCh38)
11:120200758 (GRCh37)
Canonical SPDI:: NC_000011.10:120330048:G:A
Gene:: TLCD5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.120330049G>A, NC_000011.9:g.120200758G>A, NM_174926.3:c.338G>A, NM_174926.2:c.338G>A, NM_001198670.2:c.338G>A, NM_001198670.1:c.338G>A, NM_001198671.2:c.272G>A, NM_001198671.1:c.272G>A, NM_001198672.2:c.-32G>A, NM_001198672.1:c.-32G>A, NM_001198673.2:c.-32G>A, NM_001198673.1:c.-32G>A, NM_001198675.2:c.-32G>A, NM_001198675.1:c.-32G>A, NM_001198674.2:c.272G>A, NM_001198674.1:c.272G>A, NP_777586.1:p.Cys113Tyr, NP_001185599.1:p.Trp113Ter, NP_001185600.1:p.Trp91Ter, NP_001185603.1:p.Cys91Tyr

dbSNP