Description

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 [Source:HGNC Symbol;Acc:HGNC:1540]

Synonyms

CBG

Location

Chromosome 14: 94,304,248-94,323,394 reverse strand.

View alleles of this gene on alternate assemblies

INSDC coordinates

chromosome:GRCh38:CM000676.2:94304248:94323394:1

About this gene

This gene has 3 transcripts (splice variants), 1 gene allele, 132 orthologues, 18 paralogues, is a member of 1 Ensembl protein family and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
SERPINA6-001ENST000003415841534405aaENSP00000342850
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9924P08185 NM_001756
NP_001747
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
SERPINA6-004ENST00000557225719136aaENSP00000452018
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V4V7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

SERPINA6-003ENST000005550561609278aaENSP00000451045
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-G3V350 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays