Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:12597]
AIE-75, AIE75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, harmonin, ush1cpst
Chromosome 11: 17,515,879-17,565,854 reverse strand.
This transcript has 27 exons, is annotated with 28 domains and features, is associated with 23088 variant alleles and maps to 724 oligo probes.
This transcript is a product of gene ENSG00000006611.11 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000005226.7 | USH1C-006 | 2700 | 899aa | ENSP00000005226.7 | Protein coding | CCDS7825 | Q9Y6N9 | NM_153676.3 | Ensembl Canonical, GENCODE basic, |
ENST00000527720.1 | USH1C-005 | 2278 | 521aa | ENSP00000432944.1 | Protein coding | Q9Y6N9 | - | GENCODE basic, | |
ENST00000318024.4 | USH1C-001 | 2237 | 552aa | ENSP00000317018.4 | Protein coding | CCDS31438 | Q9Y6N9 | NM_005709.3 | GENCODE basic, |
ENST00000527020.1 | USH1C-003 | 2159 | 533aa | ENSP00000436934.1 | Protein coding | Q9Y6N9 | - | GENCODE basic, | |
ENST00000526181.1 | USH1C-008 | 1040 | 317aa | ENSP00000437128.1 | Protein coding | E9PNW1 | - | CDS 3' incomplete, | |
ENST00000526313.1 | USH1C-002 | 2149 | 403aa | ENSP00000432236.1 | Nonsense mediated decay | Q9Y6N9 | - | - | |
ENST00000529563.1 | USH1C-009 | 942 | No protein | - | Processed transcript | - | - | - | |
ENST00000530700.1 | USH1C-011 | 403 | No protein | - | Processed transcript | - | - | - | |
ENST00000527551.1 | USH1C-010 | 371 | No protein | - | Retained intron | - | - | - | |
ENST00000534556.1 | USH1C-012 | 244 | No protein | - | Retained intron | - | - | - |