Human (GRCh38.p14)
Description

dysferlin [Source:HGNC Symbol;Acc:HGNC:3097]

Gene Synonyms

FER1L1, LGMD2B

Location
About this transcript

This transcript has 55 exons, is annotated with 60 domains and features, is associated with 110039 variant alleles and maps to 1171 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000410020.8DYSF-20867752119aaENSP00000386881.3
 
Protein coding
CCDS46328O75923-13 NM_001130987.2MANE SelectEnsembl CanonicalGENCODE basicAPPRIS ALT1TSL:1
ENST00000258104.8DYSF-20169522080aaENSP00000258104.3
 
Protein coding
CCDS1918O75923-1 NM_003494.4MANE Plus ClinicalGENCODE basicAPPRIS ALT1TSL:1
ENST00000409582.7DYSF-20467902118aaENSP00000386547.3
 
Protein coding
CCDS46324O75923-7 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000413539.6DYSF-21067692111aaENSP00000407046.2
 
Protein coding
CCDS46323O75923-2 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000429174.6DYSF-21167392101aaENSP00000398305.2
 
Protein coding
CCDS46326O75923-4 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000409762.5DYSF-20767272097aaENSP00000387137.1
 
Protein coding
CCDS46325O75923-5 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000409651.5DYSF-20566362112aaENSP00000386683.1
 
Protein coding
CCDS46327O75923-8 -GENCODE basicAPPRIS P3TSL:1
ENST00000409366.5DYSF-20366062102aaENSP00000386512.1
 
Protein coding
CCDS46330O75923-10 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000410041.1DYSF-20965942098aaENSP00000386617.1
 
Protein coding
CCDS46329O75923-11 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000409744.5DYSF-20665642088aaENSP00000386285.1
 
Protein coding
CCDS46332O75923-12 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000394120.6DYSF-20265432081aaENSP00000377678.2
 
Protein coding
CCDS46331O75923-14 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000698057.1DYSF-22040321257aaENSP00000513536.1
 
Protein coding
A0A8V8TMV5 -CDS 5' incomplete
ENST00000698059.1DYSF-22235481032aaENSP00000513538.1
 
Protein coding
A0A8V8TN49 -GENCODE basic
ENST00000698058.1DYSF-2213440996aaENSP00000513537.1
 
Protein coding
A0A8V8TLV7 -GENCODE basic
ENST00000479049.6DYSF-2163399961aaENSP00000513540.1
 
Protein coding
B7Z2R1 -GENCODE basicTSL:5
ENST00000475076.5DYSF-215669161aaENSP00000513539.1
 
Protein coding
A0A8V8TLD2 -TSL:2CDS 3' incomplete
ENST00000468173.1DYSF-213778No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000472873.5DYSF-214600No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000487180.5DYSF-217595No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000493767.1DYSF-218564No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000494501.5DYSF-219538No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000461565.1DYSF-212515No protein-
 
Protein coding CDS not defined
--TSL:2
Statistics

Exons: 55, Coding exons: 55, Transcript length: 6,727 bps, Translation length: 2,097 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O75923

CCDS

This transcript is a member of the Human CCDS set: CCDS46325

Transcript Support Level (TSL)

TSL:1

Version

ENST00000409762.5

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.