Transcript: ENST00000599547.1 RYR1-003

Description

ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483]

Gene Synonyms

CCO, MHS, MHS1, RYDR, RYR, RYR-1, SKRR

Location

Chromosome 19: 39,002,211-39,025,814 forward strand.

About this transcript

This transcript has 19 exons, is annotated with 7 domains and features, is associated with 11949 variant alleles and maps to 377 oligo probes.

Gene

This transcript is a product of gene ENSG00000196218.7 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000359596.3	RYR1-010	15117	5038aa	ENSP00000352608.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33011	B4DET7 O75591 P21817	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000355481.4	RYR1-001	15377	5033aa	ENSP00000347667.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42563	O75591 P21817	NM_001042723.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000360985.3	RYR1-201	15376	5033aa	ENSP00000354254.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DET7 O75591 P21817	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000599547.1	RYR1-003	2200	733aa	ENSP00000471601.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DET7	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000601514.1	RYR1-006	863	287aa	ENSP00000472497.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0R2E2	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000596431.1	RYR1-007	515	171aa	ENSP00000470848.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0QZY3	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000593677.1	RYR1-009	432	144aa	ENSP00000472126.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000594335.1	RYR1-002	6263	886aa	ENSP00000470927.1	Nonsense mediated decay		O75591	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000593322.1	RYR1-008	843	79aa	ENSP00000471404.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000594111.1	RYR1-004	548	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000600337.1	RYR1-005	421	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 19, Coding exons: 19, Transcript length: 2,200 bps, Translation length: 733 residues

Incomplete CDS

5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete

Version

ENST00000599547.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000461075 (version 1)

EMBL-EBI User Survey 2024

Favourite species

All species

Recent locations

Transcript: ENST00000599547.1 RYR1-003

Summary