Description

neurofibromin 1 [Source:HGNC Symbol;Acc:HGNC:7765]

Location

Chromosome 17: 31,094,927-31,382,116 forward strand.

GRCh38:CM000679.2

About this gene

This gene has 23 transcripts (splice variants), 78 orthologues, is a member of 3 Ensembl protein families and is associated with 16 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NF1-001ENST00000358273124252839aaENSP00000351015
 
Protein coding
CCDS42292P21359 NM_001042492
NP_001035957
TSL:1GENCODE basicAPPRIS ALT1
NF1-002ENST00000356175123622818aaENSP00000348498
 
Protein coding
CCDS11264P21359 NM_000267
NP_000258
TSL:1GENCODE basicAPPRIS P3
NF1-010ENST000004313872889593aaENSP00000412921
 
Protein coding
CCDS45645P21359 NM_001128147
NP_001121619
TSL:1GENCODE basic
NF1-003ENST0000045673577872502aaENSP00000389907
 
Protein coding
-H0Y465 -CDS 5' incompleteTSL:5
NF1-013ENST00000468273592115aaENSP00000464702
 
Protein coding
-K7EID4 -CDS 5' incompleteTSL:2
NF1-023ENST00000489712543117aaENSP00000467284
 
Protein coding
-K7EP94 -CDS 3' incompleteTSL:4
NF1-009ENST0000057908187881656aaENSP00000462408
 
Nonsense mediated decay
-J3KSB5 -CDS 5' incompleteTSL:1
NF1-006ENST000004959108223124aaENSP00000463682
 
Nonsense mediated decay
-J3QLS2 -CDS 5' incompleteTSL:2
NF1-014ENST000004715722028640aaENSP00000464678
 
Nonsense mediated decay
-J3QSG6 -CDS 5' incompleteTSL:2
NF1-015ENST000005817901256206aaENSP00000462700
 
Nonsense mediated decay
-J3KSX8 -CDS 5' incompleteTSL:2
NF1-007ENST000004668191177227aaENSP00000463819
 
Nonsense mediated decay
-J3QQN8 -CDS 5' incompleteTSL:5
NF1-008ENST000004796141114206aaENSP00000462157
 
Nonsense mediated decay
-J3KRT8 -CDS 5' incompleteTSL:5
NF1-012ENST0000047953681181aaENSP00000467080
 
Nonsense mediated decay
-K7ENT2 -CDS 5' incompleteTSL:3
NF1-020ENST0000042212161913aaENSP00000465138
 
Nonsense mediated decay
-K7EJE7 -CDS 5' incompleteTSL:3
NF1-017ENST000005811131464No protein-
 
Processed transcript
---TSL:5
NF1-021ENST00000498569620No protein-
 
Processed transcript
---TSL:2
NF1-022ENST00000488981331No protein-
 
Processed transcript
---TSL:2
NF1-016ENST000005779675799No protein-
 
Retained intron
---TSL:NA
NF1-005ENST000004932205691No protein-
 
Retained intron
---TSL:2
NF1-004ENST000004874762265No protein-
 
Retained intron
---TSL:1
NF1-011ENST00000490416884No protein-
 
Retained intron
---TSL:3
NF1-018ENST00000584328566No protein-
 
Retained intron
---TSL:2
NF1-019ENST00000582892462No protein-
 
Retained intron
---TSL:4

Gene-based displays