Human (GRCh37.p13)
Description

Meckel syndrome, type 1 [Source:HGNC Symbol;Acc:7121]

Gene Synonyms

BBS13, FLJ20345, MES, MKS, POC12

Location
About this transcript

This transcript has 18 exons, is annotated with 9 domains and features, is associated with 6268 variant alleles and maps to 635 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000393119.2MKS1-0032392559aaENSP00000376827.2
 
Protein coding
CCDS11603F5H5Y8 Q9NXB0 NM_017777.3GENCODE basic
ENST00000313863.6MKS1-0022091456aaENSP00000316631.6
 
Protein coding
H0Y2S2 -GENCODE basic
ENST00000537529.2MKS1-0012083549aaENSP00000442096.2
 
Protein coding
CCDS54148F5H5Y8 Q9NXB0 NM_001165927.1GENCODE basic
ENST00000546108.1MKS1-2021926356aaENSP00000443012.1
 
Protein coding
F5H5Y8 -GENCODE basic
ENST00000337050.7MKS1-2011576521aaENSP00000338407.7
 
Protein coding
A8MPP8 -GENCODE basic
ENST00000577824.1MKS1-0121158228aaENSP00000462460.1
 
Protein coding
--CDS 5' incomplete
ENST00000585134.1MKS1-010824211aaENSP00000463826.1
 
Protein coding
J3QQP4 -CDS 5' incomplete
ENST00000577315.1MKS1-011495117aaENSP00000462179.1
 
Protein coding
--CDS 5' incomplete
ENST00000393120.2MKS1-0041926164aaENSP00000376828.2
 
Nonsense mediated decay
J9PBQ5 --
ENST00000580127.1MKS1-008843146aaENSP00000462423.1
 
Nonsense mediated decay
J3KSC6 --
ENST00000581761.1MKS1-007812121aaENSP00000462129.1
 
Nonsense mediated decay
J3KRR3 --
ENST00000578789.1MKS1-00556848aaENSP00000462411.1
 
Nonsense mediated decay
J3KSB7 --
ENST00000581180.1MKS1-006899No protein-
 
Retained intron
---
ENST00000583577.1MKS1-013697No protein-
 
Retained intron
---
ENST00000579358.1MKS1-009567No protein-
 
Retained intron
---
Statistics

Exons: 18, Coding exons: 18, Transcript length: 2,392 bps, Translation length: 559 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9NXB0

CCDS

This transcript is a member of the Human CCDS set: CCDS11603

Version

ENST00000393119.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000258015 (version 2)
GENCODE basic gene

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