Description

Usher syndrome 1C [Source:HGNC Symbol;Acc:HGNC:12597]

Synonyms

AIE-75, DFNB18, harmonin, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C

Location
About this transcript

This transcript has 27 exons, is annotated with 28 domains and features, is associated with 512 variations and maps to 46 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
USH1C-006ENST000000052262700899aaENSP00000005226
 
Protein coding
CCDS7825Q9Y6N9 NM_153676
NP_710142
TSL:5GENCODE basicAPPRIS P3
USH1C-001ENST000003180242237552aaENSP00000317018
 
Protein coding
CCDS31438Q9Y6N9 NM_005709
NP_005700
TSL:1GENCODE basicAPPRIS ALT2
USH1C-003ENST000005270202159533aaENSP00000436934
 
Protein coding
CCDS73265Q9Y6N9 NM_001297764
NP_001284693
TSL:1GENCODE basic
USH1C-005ENST000005277202278521aaENSP00000432944
 
Protein coding
-Q9Y6N9 -TSL:1GENCODE basic
USH1C-008ENST000005261811040318aaENSP00000437128
 
Protein coding
-E9PNW1 -CDS 3' incompleteTSL:5
USH1C-002ENST000005263132149403aaENSP00000432236
 
Nonsense mediated decay
-Q9Y6N9 -TSL:1
USH1C-009ENST00000529563942No protein-
 
Processed transcript
---TSL:2
USH1C-011ENST00000530700403No protein-
 
Processed transcript
---TSL:3
USH1C-010ENST00000527551371No protein-
 
Retained intron
---TSL:2
USH1C-012ENST00000534556244No protein-
 
Retained intron
---TSL:3
USH1C-007ENST000006248111194No protein-
 
TEC
---TSL:NA

Protein domains for ENSP00000005226.7

Transcript-based displays