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 20 exons, is associated with 270 variations and maps to 36 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 ENSP00000432236.1

Transcript-based displays