Human (GRCh37.p13)
Description

cystathionine-beta-synthase [Source:HGNC Symbol;Acc:1550]

Gene Synonyms

HIP4

Location

Chromosome 21: 44,473,301-44,497,053 reverse strand.

GRCh37:CM000683.1

About this gene

This gene has 19 transcripts (splice variants) and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000398165.3CBS-0032605551aaENSP00000381231.3
 
Protein coding
CCDS13693C9JMA6 F5H2U1 P35520
Q3LR94 Q96EH7
NM_000071.2GENCODE basic
ENST00000352178.5CBS-0012583551aaENSP00000344460.5
 
Protein coding
CCDS13693C9JMA6 F5H2U1 P35520
Q3LR94 Q96EH7
NM_001178008.1GENCODE basic
ENST00000398168.1CBS-2012554565aaENSP00000381234.1
 
Protein coding
C9JMA6 P35520 Q3LR94
-GENCODE basic
ENST00000398158.1CBS-0042453551aaENSP00000381225.1
 
Protein coding
CCDS13693C9JMA6 F5H2U1 P35520
Q3LR94 Q96EH7
-GENCODE basic
ENST00000359624.3CBS-0022353551aaENSP00000352643.3
 
Protein coding
CCDS13693C9JMA6 F5H2U1 P35520
Q3LR94 Q96EH7
NM_001178009.1GENCODE basic
ENST00000544202.1CBS-2021703463aaENSP00000439332.1
 
Protein coding
F5H2U1 Q3LR94 Q96EH7
-GENCODE basic
ENST00000430013.1CBS-014828224aaENSP00000405929.1
 
Protein coding
--CDS 5' incomplete
ENST00000441030.1CBS-007819177aaENSP00000388235.1
 
Protein coding
C9JMA6 -CDS 3' incomplete
ENST00000458223.1CBS-015676159aaENSP00000408014.1
 
Protein coding
--CDS 5' incomplete
ENST00000451248.1CBS-016573149aaENSP00000402823.1
 
Protein coding
--CDS 5' incomplete
ENST00000470912.1CBS-008894No protein-
 
Processed transcript
---
ENST00000478709.1CBS-017727No protein-
 
Processed transcript
---
ENST00000465732.1CBS-009683No protein-
 
Processed transcript
---
ENST00000488526.1CBS-010672No protein-
 
Processed transcript
---
ENST00000461686.1CBS-0052656No protein-
 
Retained intron
---
ENST00000491776.1CBS-0061515No protein-
 
Retained intron
---
ENST00000462349.1CBS-0131038No protein-
 
Retained intron
---
ENST00000486098.1CBS-012773No protein-
 
Retained intron
---
ENST00000496485.1CBS-011673No protein-
 
Retained intron
---