Transcript: ENST00000372059.2 AMMECR1-005

Description

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 [Source:HGNC Symbol;Acc:467]

Gene Synonyms

AMMERC1

Location

About this transcript

This transcript has 5 exons, is annotated with 10 domains and features, is associated with 31539 variant alleles and maps to 430 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000262844.5	AMMECR1-001	5504	333aa	ENSP00000262844.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14551	Q9Y4X0	NM_015365.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000372057.1	AMMECR1-002	3380	210aa	ENSP00000361127.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55476	Q9Y4X0	NM_001171689.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000372059.2	AMMECR1-005	3052	296aa	ENSP00000361129.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35368	Q9Y4X0	NM_001025580.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000496695.1	AMMECR1-004	546	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473662.1	AMMECR1-003	418	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Statistics

Exons: 5, Coding exons: 5, Transcript length: 3,052 bps, Translation length: 296 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9Y4X0

CCDS

This transcript is a member of the Human CCDS set: CCDS35368

Version

ENST00000372059.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000355125 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.