exostosin glycosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:3512]
LGCR, LGS, TTV
Chromosome 8: 117,794,490-118,111,826 reverse strand.
GRCh38:CM000670.2
This gene has 5 transcripts (splice variants), 259 orthologues, 4 paralogues and is associated with 65 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000378204.7 | EXT1-201 | 8243 | 746aa | ENSP00000367446.3 | Protein coding | CCDS6324 | Q16394 | NM_000127.3 | MANE Select, Ensembl Canonical, GENCODE basic, APPRIS P1, TSL:1, |
ENST00000437196.1 | EXT1-203 | 1446 | 41aa | ENSP00000407299.1 | Nonsense mediated decay | F8WF54 | - | TSL:5, | |
ENST00000436216.2 | EXT1-202 | 840 | 207aa | ENSP00000400372.1 | Nonsense mediated decay | H7C1H6 | - | TSL:3, CDS 5' incomplete, | |
ENST00000684189.1 | EXT1-204 | 2006 | No protein | - | Protein coding CDS not defined | - | - | - | |
ENST00000684443.1 | EXT1-205 | 2492 | No protein | - | Retained intron | - | - | - |