Description
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase [Source:HGNC Symbol;Acc:18294]
Gene Synonyms
CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1
Location
Chromosome 16: 5,083,703-5,137,380 forward strand.
GRCh37:CM000678.1
About this gene
This gene has 9 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000588623.1 | ALG1-004 | 2671 | 353aa | ENSP00000468118.1 | Protein coding | B4DP08 K7EID2 | - | GENCODE basic, | |
ENST00000262374.5 | ALG1-001 | 1939 | 464aa | ENSP00000262374.4 | Protein coding | CCDS10528 | B4DP08 K7EID2 Q9BT22 | NM_019109.4 | GENCODE basic, |
ENST00000544428.1 | ALG1-003 | 1419 | 353aa | ENSP00000440019.1 | Protein coding | B4DP08 K7EID2 | - | GENCODE basic, | |
ENST00000591783.1 | ALG1-010 | 742 | 167aa | ENSP00000464700.1 | Protein coding | K7EID2 | - | CDS 3' incomplete, | |
ENST00000586840.1 | ALG1-011 | 582 | 184aa | ENSP00000467538.1 | Protein coding | K7EPU3 | - | CDS 3' incomplete, | |
ENST00000591822.1 | ALG1-002 | 1689 | 84aa | ENSP00000467865.1 | Nonsense mediated decay | K7EQK1 | - | - | |
ENST00000592661.1 | ALG1-008 | 1473 | No protein | - | Processed transcript | - | - | - | |
ENST00000591961.1 | ALG1-005 | 2265 | No protein | - | Retained intron | - | - | - | |
ENST00000592793.1 | ALG1-009 | 569 | No protein | - | Retained intron | - | - | - |