View ELN gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ELN
Gene name elastin
Chromosome 7
Chromosomal band q11.1-q21.1
Imprinted Unknown
Genomic reference NC_000007.13
Transcript reference NM_000501.3, NM_001081752.2, NM_001081753.2, NM_001081754.2, NM_001081755.2, NM_001278912.1, NM_001278913.1, NM_001278914.1, NM_001278915.1, NM_001278916.1, NM_001278917.1, NM_001278918.1, NM_001278939.1, XM_005250187.1, XM_005250188.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 15, 2013

Links to other resources
HGNC 3327
Entrez Gene 2006
PubMed articles ELN
OMIM - Gene 130160
HGMD ELN
GeneCards ELN
GeneTests ELN


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001872 7 transcript variant 4 NM_001081754.2 NP_001075223.1 0
00001873 7 transcript variant 3 NM_001081753.2 NP_001075222.1 0
00001874 7 transcript variant 13 NM_001278939.1 NP_001265868.1 0
00001875 7 transcript variant 9 NM_001278915.1 NP_001265844.1 0
00001876 7 transcript variant 1 NM_000501.3 NP_000492.2 0
00001877 7 transcript variant 6 NM_001278912.1 NP_001265841.1 0
00001878 7 transcript variant 5 NM_001081755.2 NP_001075224.1 0
00001879 7 transcript variant 10 NM_001278916.1 NP_001265845.1 0
00001880 7 transcript variant 7 NM_001278913.1 NP_001265842.1 0
00001881 7 transcript variant 8 NM_001278914.1 NP_001265843.1 0
00001882 7 transcript variant 11 NM_001278917.1 NP_001265846.1 0
00001883 7 transcript variant 2 NM_001081752.2 NP_001075221.1 0
00001884 7 transcript variant 12 NM_001278918.1 NP_001265847.1 0
00001885 7 transcript variant X1 XM_005250187.1 XP_005250244.1 0
00001886 7 transcript variant X2 XM_005250188.1 XP_005250245.1 0


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium