The COL11A1 gene homepage

General information
Gene symbol COL11A1
Gene name collagen, type XI, alpha 1
Chromosome 1
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_008033.2
Transcript reference NM_001190709.1, NM_080629.2
Exon/intron information NM_080629.2 exon/intron table
Associated with diseases FBCG-1, IDD, MRSHS, STL-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 410
Unique public DNA variants reported 287
Individuals with public variants 247
Hidden variants 58
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 17, 2021
Version COL11A1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_080629.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 2186
Entrez Gene 1301
PubMed articles COL11A1
OMIM - Gene 120280
OMIM - Diseases FBCG-1 (fibrochondrogenesis, type 1 (FBCG-1))
IDD (intervertebral disc disease (IDD))
MRSHS (Marshall syndrome (MRSHS))
STL-2 (Stickler syndrome, type II (STL-2))
GeneCards COL11A1
GeneTests COL11A1
Orphanet COL11A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00023834 1 transcript variant E NM_001190709.1 NP_001177638.1 401
00024026 1 transcript variant B NM_080629.2 NP_542196.2 312

Copyright & disclaimer
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